PubMed:17962394 JSONTXT

{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T1","span":{"begin":173,"end":187},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"DISEASE"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"TEST-ChemicalEntity","denotations":[{"id":"T1","span":{"begin":571,"end":579},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":789,"end":797},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":828,"end":835},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"ChemicalEntity"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A3","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A4","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A5","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_57305"},{"id":"A6","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_29947"},{"id":"A7","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_15428"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":77,"end":84},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":725,"end":733},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":837,"end":844},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":1179,"end":1186},"obj":"SequenceVariant"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T1","span":{"begin":111,"end":116},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":254,"end":258},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":352,"end":357},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":399,"end":411},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":571,"end":588},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":863,"end":868},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":1203,"end":1208},"obj":"GeneOrGeneProduct"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"Test-merged","denotations":[{"id":"T1","span":{"begin":173,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1203,"end":1208},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":863,"end":868},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":571,"end":588},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":399,"end":411},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":352,"end":357},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":254,"end":258},"obj":"GeneOrGeneProduct"},{"id":"T5223","span":{"begin":111,"end":116},"obj":"GeneOrGeneProduct"},{"id":"T22164","span":{"begin":828,"end":835},"obj":"ChemicalEntity"},{"id":"T47011","span":{"begin":789,"end":797},"obj":"ChemicalEntity"},{"id":"T5327","span":{"begin":1179,"end":1186},"obj":"SequenceVariant"},{"id":"T86947","span":{"begin":837,"end":844},"obj":"SequenceVariant"},{"id":"T61695","span":{"begin":725,"end":733},"obj":"SequenceVariant"},{"id":"T26469","span":{"begin":77,"end":84},"obj":"SequenceVariant"}],"attributes":[{"id":"A4","pred":"ID:","subj":"T47011","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A3","pred":"ID:","subj":"T47011","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A2","pred":"ID:","subj":"T47011","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A7","pred":"ID:","subj":"T22164","obj":"http://purl.obolibrary.org/obo/CHEBI_15428"},{"id":"A6","pred":"ID:","subj":"T22164","obj":"http://purl.obolibrary.org/obo/CHEBI_29947"},{"id":"A5","pred":"ID:","subj":"T22164","obj":"http://purl.obolibrary.org/obo/CHEBI_57305"},{"id":"A1","pred":"#label","subj":"T1","obj":"DISEASE"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"Test-merged-2","denotations":[{"id":"T26469","span":{"begin":77,"end":84},"obj":"SequenceVariant"},{"id":"T61695","span":{"begin":725,"end":733},"obj":"SequenceVariant"},{"id":"T86947","span":{"begin":837,"end":844},"obj":"SequenceVariant"},{"id":"T5327","span":{"begin":1179,"end":1186},"obj":"SequenceVariant"},{"id":"T97569","span":{"begin":571,"end":579},"obj":"ChemicalEntity"},{"id":"T47011","span":{"begin":789,"end":797},"obj":"ChemicalEntity"},{"id":"T22164","span":{"begin":828,"end":835},"obj":"ChemicalEntity"},{"id":"T5223","span":{"begin":111,"end":116},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":254,"end":258},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":352,"end":357},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":399,"end":411},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":571,"end":588},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":863,"end":868},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":1203,"end":1208},"obj":"GeneOrGeneProduct"},{"id":"T1","span":{"begin":173,"end":187},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A27979","pred":"ID:","subj":"T97569","obj":"ChemicalEntity"},{"id":"A5","pred":"ID:","subj":"T22164","obj":"http://purl.obolibrary.org/obo/CHEBI_57305"},{"id":"A6","pred":"ID:","subj":"T22164","obj":"http://purl.obolibrary.org/obo/CHEBI_29947"},{"id":"A7","pred":"ID:","subj":"T22164","obj":"http://purl.obolibrary.org/obo/CHEBI_15428"},{"id":"A2","pred":"ID:","subj":"T47011","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A3","pred":"ID:","subj":"T47011","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A4","pred":"ID:","subj":"T47011","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A1","pred":"#label","subj":"T1","obj":"DISEASE"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1203,"end":1208},"obj":"gene:90167"},{"id":"T1","span":{"begin":1225,"end":1228},"obj":"disease:C0028738"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":207,"end":215},"obj":"HP_0001417"},{"id":"T2","span":{"begin":216,"end":225},"obj":"HP_0000639"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"17962394-11#8#15#geners137852212","span":{"begin":1179,"end":1186},"obj":"geners137852212"},{"id":"17962394-11#54#57#diseaseC0028738","span":{"begin":1225,"end":1228},"obj":"diseaseC0028738"},{"id":"17962394-11#151#154#diseaseC0028738","span":{"begin":1322,"end":1325},"obj":"diseaseC0028738"}],"relations":[{"id":"8#15#geners13785221254#57#diseaseC0028738","pred":"associated_with","subj":"17962394-11#8#15#geners137852212","obj":"17962394-11#54#57#diseaseC0028738"},{"id":"8#15#geners137852212151#154#diseaseC0028738","pred":"associated_with","subj":"17962394-11#8#15#geners137852212","obj":"17962394-11#151#154#diseaseC0028738"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17962394-11#32#37#gene90167","span":{"begin":1203,"end":1208},"obj":"gene90167"},{"id":"17962394-11#54#57#diseaseC0028738","span":{"begin":1225,"end":1228},"obj":"diseaseC0028738"}],"relations":[{"id":"32#37#gene9016754#57#diseaseC0028738","pred":"associated_with","subj":"17962394-11#32#37#gene90167","obj":"17962394-11#54#57#diseaseC0028738"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":77,"end":84},"obj":"ProteinMutation:p|SUB|R|229|G"},{"id":"T2","span":{"begin":725,"end":733},"obj":"DNAMutation:c|SUB|C|686|G"},{"id":"T3","span":{"begin":837,"end":844},"obj":"ProteinMutation:p|SUB|R|229|G"},{"id":"T4","span":{"begin":1179,"end":1186},"obj":"ProteinMutation:p|SUB|R|229|G"}],"text":"Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.\nAIMS: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.\nMETHODS: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene.\nRESULTS: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C\u003eG mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family.\nCONCLUSIONS: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females."}