PubMed:15807692 JSONTXT

{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T1","span":{"begin":542,"end":547},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"NCBItxid:79338"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":120},"obj":"Sentence"},{"id":"T2","span":{"begin":121,"end":376},"obj":"Sentence"},{"id":"T3","span":{"begin":377,"end":620},"obj":"Sentence"},{"id":"T4","span":{"begin":621,"end":745},"obj":"Sentence"},{"id":"T5","span":{"begin":746,"end":965},"obj":"Sentence"},{"id":"T6","span":{"begin":966,"end":1038},"obj":"Sentence"},{"id":"T7","span":{"begin":1039,"end":1197},"obj":"Sentence"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-entities","denotations":[{"id":"1646","span":{"begin":29,"end":41},"obj":"GeneOrGeneProduct"},{"id":"1647","span":{"begin":77,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"1648","span":{"begin":267,"end":279},"obj":"GeneOrGeneProduct"},{"id":"1649","span":{"begin":296,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"1650","span":{"begin":340,"end":357},"obj":"DiseaseOrPhenotypicFeature"},{"id":"1651","span":{"begin":367,"end":374},"obj":"DiseaseOrPhenotypicFeature"},{"id":"1652","span":{"begin":404,"end":454},"obj":"SequenceVariant"},{"id":"1653","span":{"begin":478,"end":486},"obj":"SequenceVariant"},{"id":"1654","span":{"begin":648,"end":653},"obj":"SequenceVariant"},{"id":"1655","span":{"begin":730,"end":744},"obj":"SequenceVariant"},{"id":"1656","span":{"begin":1129,"end":1136},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A4","pred":"db_id","subj":"1649","obj":"MESH:D016108"},{"id":"A3","pred":"db_id","subj":"1648","obj":"NCBIGene:1294"},{"id":"A11","pred":"db_id","subj":"1656","obj":"MESH:D016108"},{"id":"A2","pred":"db_id","subj":"1647","obj":"MESH:D016108"},{"id":"A9","pred":"db_id","subj":"1654","obj":"c|SUB|G||A"},{"id":"A10","pred":"db_id","subj":"1655","obj":"c|SUB|G|IVS51+1|A"},{"id":"A7","pred":"db_id","subj":"1652","obj":"c|DEL||C"},{"id":"A5","pred":"db_id","subj":"1650","obj":"MESH:D016108"},{"id":"A1","pred":"db_id","subj":"1646","obj":"NCBIGene:1294"},{"id":"A8","pred":"db_id","subj":"1653","obj":"c|DEL|3472|C"},{"id":"A6","pred":"db_id","subj":"1651","obj":"MESH:D016108"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":77,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":87,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":98,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":296,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":306,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":317,"end":338},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0009179"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0017608"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0006541"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0009179"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0017608"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0006541"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":421,"end":434},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":478,"end":486},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":648,"end":653},"obj":"SequenceVariant"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":18,"end":23},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":24,"end":41},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":47,"end":56},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":158,"end":162},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":163,"end":168},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":239,"end":244},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":245,"end":254},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":262,"end":279},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":390,"end":398},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":411,"end":415},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":416,"end":420},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":498,"end":502},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":611,"end":619},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":634,"end":642},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":689,"end":695},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":751,"end":759},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":773,"end":783},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":789,"end":796},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":797,"end":803},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":834,"end":842},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":875,"end":878},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":888,"end":896},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":927,"end":931},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":932,"end":943},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":994,"end":1003},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":1045,"end":1053},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":1054,"end":1060},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":1108,"end":1117},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":1153,"end":1158},"obj":"GeneOrGeneProduct"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":18,"end":23},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":24,"end":41},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":163,"end":168},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":239,"end":244},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":262,"end":279},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":789,"end":796},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":927,"end":931},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":1054,"end":1060},"obj":"GeneOrGeneProduct"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":87,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":306,"end":338},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D016108"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D016108"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":24,"end":41},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":262,"end":279},"obj":"GeneOrGeneProduct"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":77,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":296,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":367,"end":369},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":370,"end":374},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1129,"end":1131},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1132,"end":1136},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0009179"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0009179"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0019395"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0009179"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0019395"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0009179"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":87,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":306,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":340,"end":357},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":367,"end":374},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1129,"end":1136},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D016108"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D016108"},{"id":"A3","pred":"ID:","subj":"T3","obj":"DISEASE"},{"id":"A4","pred":"ID:","subj":"T4","obj":"DISEASE"},{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":87,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":306,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":340,"end":357},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":367,"end":374},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1129,"end":1136},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D016108"},{"id":"A2","pred":"#label","subj":"T2","obj":"D016108"},{"id":"A3","pred":"#label","subj":"T3","obj":"DISEASE"},{"id":"A4","pred":"#label","subj":"T4","obj":"DISEASE"},{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":33,"end":41},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":271,"end":279},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":435,"end":443},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":549,"end":552},"obj":"ChemicalEntity"},{"id":"T6","span":{"begin":961,"end":964},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_3815"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_3815"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D003596"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_16040"},{"id":"A5","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_46261"},{"id":"A6","pred":"ID:","subj":"T6","obj":"http://purl.obolibrary.org/obo/CHEBI_46261"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T6","span":{"begin":961,"end":964},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":549,"end":552},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":435,"end":443},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":271,"end":279},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":33,"end":41},"obj":"ChemicalEntity"},{"id":"T88548","span":{"begin":262,"end":279},"obj":"GeneOrGeneProduct"},{"id":"T5300","span":{"begin":24,"end":41},"obj":"GeneOrGeneProduct"},{"id":"T48162","span":{"begin":1129,"end":1136},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":367,"end":374},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T81576","span":{"begin":340,"end":357},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T58321","span":{"begin":306,"end":338},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9945","span":{"begin":87,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14039","span":{"begin":648,"end":653},"obj":"SequenceVariant"},{"id":"T77365","span":{"begin":478,"end":486},"obj":"SequenceVariant"},{"id":"T51116","span":{"begin":421,"end":434},"obj":"SequenceVariant"}],"attributes":[{"id":"A6","pred":"ID:","subj":"T6","obj":"http://purl.obolibrary.org/obo/CHEBI_46261"},{"id":"A5","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_46261"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_16040"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D003596"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_3815"},{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_3815"},{"id":"A48361","pred":"#label","subj":"T48162","obj":"DISEASE"},{"id":"A61244","pred":"#label","subj":"T4","obj":"DISEASE"},{"id":"A41034","pred":"#label","subj":"T81576","obj":"DISEASE"},{"id":"A33481","pred":"#label","subj":"T58321","obj":"D016108"},{"id":"A41887","pred":"#label","subj":"T9945","obj":"D016108"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":478,"end":486},"obj":"DNAMutation:c|DEL|3472|C"},{"id":"T2","span":{"begin":648,"end":653},"obj":"DNAMutation:|SUB|G||A"},{"id":"T3","span":{"begin":730,"end":744},"obj":"DNAMutation:c|SUB|G|IVS51+1|A"}],"text":"Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.\nIn this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G--\u003eA transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G--\u003eA. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family."}