PubMed:20806042 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/20806042","sourcedb":"PubMed","sourceid":"20806042","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/20806042","text":"A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.\nPURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC).\nMETHODS: All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from peripheral blood was amplified by polymerase chain reaction (PCR) method and the exons of all candidate genes were sequenced.\nRESULTS: Direct sequencing of the encoding regions of the candidate genes revealed a heterozygous mutation c.592C--\u003eT in exon 2 of the gap junction protein, alpha 8 (GJA8) gene. This mutation was responsible for the familial disorder through the substitution of a highly conserved arginine to tryptophan at codon 198 (p.R198W). This change co-segregated with all affected members of the family, but was not detected either in the non-carrier relatives or in the 100 normal controls.\nCONCLUSIONS: This report is the first to relate p.R198W mutation in GJA8 with CCMC. The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye.","tracks":[{"project":"PubTator4TogoVar","denotations":[{"id":"20806042_0","span":{"begin":860,"end":867},"obj":"ProteinMutation"},{"id":"20806042_1","span":{"begin":823,"end":858},"obj":"ProteinMutation"},{"id":"20806042_2","span":{"begin":1075,"end":1082},"obj":"ProteinMutation"}],"attributes":[{"id":"20806042_0_ProteinMutation","pred":"proteinmutation","subj":"20806042_0","obj":"rs375284574"},{"id":"20806042_1_ProteinMutation","pred":"proteinmutation","subj":"20806042_1","obj":"rs375284574"},{"id":"20806042_2_ProteinMutation","pred":"proteinmutation","subj":"20806042_2","obj":"rs375284574"},{"subj":"20806042_0","pred":"source","obj":"PubTator4TogoVar"},{"subj":"20806042_1","pred":"source","obj":"PubTator4TogoVar"},{"subj":"20806042_2","pred":"source","obj":"PubTator4TogoVar"}]},{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T1","span":{"begin":44,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":133,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":229,"end":258},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":260,"end":264},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1101,"end":1105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1186,"end":1194},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"C538287"},{"id":"A2","pred":"#label","subj":"T2","obj":"DISEASE"},{"id":"A3","pred":"#label","subj":"T3","obj":"C538287"},{"id":"A4","pred":"#label","subj":"T4","obj":"C538287"},{"id":"A5","pred":"#label","subj":"T5","obj":"C538287"},{"id":"A6","pred":"#label","subj":"T6","obj":"D002386"},{"subj":"T1","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"},{"subj":"T2","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"},{"subj":"T3","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"},{"subj":"T4","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"},{"subj":"T5","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"},{"subj":"T6","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"}]},{"project":"TEST-ChemicalEntity","denotations":[{"id":"T1","span":{"begin":821,"end":829},"obj":"ChemicalEntity"},{"id":"T4","span":{"begin":833,"end":843},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A3","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_57912"},{"id":"A5","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_57719"},{"id":"A6","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_27897"},{"id":"A7","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_16828"},{"subj":"T1","pred":"source","obj":"TEST-ChemicalEntity"},{"subj":"T4","pred":"source","obj":"TEST-ChemicalEntity"}]},{"project":"TEST-OrganismTaxon","denotations":[{"id":"T1","span":{"begin":1290,"end":1294},"obj":"OrganismTaxon"}],"attributes":[{"subj":"T1","pred":"source","obj":"TEST-OrganismTaxon"}]},{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":649,"end":653},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":858,"end":865},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":1071,"end":1078},"obj":"SequenceVariant"}],"attributes":[{"subj":"T1","pred":"source","obj":"Test-SequenceVariant"},{"subj":"T2","pred":"source","obj":"Test-SequenceVariant"},{"subj":"T3","pred":"source","obj":"Test-SequenceVariant"}]},{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T1","span":{"begin":20,"end":24},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":33,"end":52},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":218,"end":237},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":675,"end":704},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":706,"end":710},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":1091,"end":1095},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":1151,"end":1155},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":1175,"end":1194},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T1","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T2","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T3","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T4","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T5","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T6","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T7","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T8","pred":"source","obj":"Test-GeneOrGeneProduct"}]},{"project":"Test-merged-2","denotations":[{"id":"T20910","span":{"begin":649,"end":653},"obj":"SequenceVariant"},{"id":"T2953","span":{"begin":858,"end":865},"obj":"SequenceVariant"},{"id":"T61400","span":{"begin":1071,"end":1078},"obj":"SequenceVariant"},{"id":"T20097","span":{"begin":821,"end":829},"obj":"ChemicalEntity"},{"id":"T4811","span":{"begin":833,"end":843},"obj":"ChemicalEntity"},{"id":"T22906","span":{"begin":20,"end":24},"obj":"GeneOrGeneProduct"},{"id":"T4430","span":{"begin":33,"end":52},"obj":"GeneOrGeneProduct"},{"id":"T67239","span":{"begin":218,"end":237},"obj":"GeneOrGeneProduct"},{"id":"T35887","span":{"begin":675,"end":704},"obj":"GeneOrGeneProduct"},{"id":"T13111","span":{"begin":706,"end":710},"obj":"GeneOrGeneProduct"},{"id":"T62370","span":{"begin":1091,"end":1095},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":1151,"end":1155},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":1175,"end":1194},"obj":"GeneOrGeneProduct"},{"id":"T61051","span":{"begin":1290,"end":1294},"obj":"OrganismTaxon"},{"id":"T1","span":{"begin":44,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":133,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":229,"end":258},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":260,"end":264},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1101,"end":1105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1186,"end":1194},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"C538287"},{"id":"A3","pred":"#label","subj":"T3","obj":"C538287"},{"id":"A78104","pred":"ID:","subj":"T20097","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A85831","pred":"ID:","subj":"T20097","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A51951","pred":"ID:","subj":"T20097","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A6","pred":"#label","subj":"T6","obj":"D002386"},{"id":"A5","pred":"#label","subj":"T5","obj":"C538287"},{"id":"A48934","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_57912"},{"id":"A95145","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_57719"},{"id":"A77114","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_27897"},{"id":"A7","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_16828"},{"id":"A4","pred":"#label","subj":"T4","obj":"C538287"},{"id":"A2","pred":"#label","subj":"T2","obj":"DISEASE"},{"subj":"T20910","pred":"source","obj":"Test-merged-2"},{"subj":"T2953","pred":"source","obj":"Test-merged-2"},{"subj":"T61400","pred":"source","obj":"Test-merged-2"},{"subj":"T20097","pred":"source","obj":"Test-merged-2"},{"subj":"T4811","pred":"source","obj":"Test-merged-2"},{"subj":"T22906","pred":"source","obj":"Test-merged-2"},{"subj":"T4430","pred":"source","obj":"Test-merged-2"},{"subj":"T67239","pred":"source","obj":"Test-merged-2"},{"subj":"T35887","pred":"source","obj":"Test-merged-2"},{"subj":"T13111","pred":"source","obj":"Test-merged-2"},{"subj":"T62370","pred":"source","obj":"Test-merged-2"},{"subj":"T7","pred":"source","obj":"Test-merged-2"},{"subj":"T8","pred":"source","obj":"Test-merged-2"},{"subj":"T61051","pred":"source","obj":"Test-merged-2"},{"subj":"T1","pred":"source","obj":"Test-merged-2"},{"subj":"T2","pred":"source","obj":"Test-merged-2"},{"subj":"T3","pred":"source","obj":"Test-merged-2"},{"subj":"T4","pred":"source","obj":"Test-merged-2"},{"subj":"T5","pred":"source","obj":"Test-merged-2"},{"subj":"T6","pred":"source","obj":"Test-merged-2"}]},{"project":"Test-merged","denotations":[{"id":"T5","span":{"begin":1101,"end":1105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":260,"end":264},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":229,"end":258},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":133,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T1","span":{"begin":44,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T61051","span":{"begin":1290,"end":1294},"obj":"OrganismTaxon"},{"id":"T8","span":{"begin":1175,"end":1194},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":1151,"end":1155},"obj":"GeneOrGeneProduct"},{"id":"T62370","span":{"begin":1091,"end":1095},"obj":"GeneOrGeneProduct"},{"id":"T13111","span":{"begin":706,"end":710},"obj":"GeneOrGeneProduct"},{"id":"T35887","span":{"begin":675,"end":704},"obj":"GeneOrGeneProduct"},{"id":"T67239","span":{"begin":218,"end":237},"obj":"GeneOrGeneProduct"},{"id":"T4430","span":{"begin":33,"end":52},"obj":"GeneOrGeneProduct"},{"id":"T22906","span":{"begin":20,"end":24},"obj":"GeneOrGeneProduct"},{"id":"T4811","span":{"begin":833,"end":843},"obj":"ChemicalEntity"},{"id":"T20097","span":{"begin":821,"end":829},"obj":"ChemicalEntity"},{"id":"T61400","span":{"begin":1071,"end":1078},"obj":"SequenceVariant"},{"id":"T2953","span":{"begin":858,"end":865},"obj":"SequenceVariant"},{"id":"T20910","span":{"begin":649,"end":653},"obj":"SequenceVariant"}],"attributes":[{"id":"A2","pred":"#label","subj":"T2","obj":"DISEASE"},{"id":"A51951","pred":"ID:","subj":"T20097","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A85831","pred":"ID:","subj":"T20097","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A78104","pred":"ID:","subj":"T20097","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A1","pred":"#label","subj":"T1","obj":"C538287"},{"id":"A5","pred":"#label","subj":"T5","obj":"C538287"},{"id":"A7","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_16828"},{"id":"A77114","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_27897"},{"id":"A95145","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_57719"},{"id":"A48934","pred":"ID:","subj":"T4811","obj":"http://purl.obolibrary.org/obo/CHEBI_57912"},{"id":"A4","pred":"#label","subj":"T4","obj":"C538287"},{"id":"A3","pred":"#label","subj":"T3","obj":"C538287"},{"subj":"T5","pred":"source","obj":"Test-merged"},{"subj":"T4","pred":"source","obj":"Test-merged"},{"subj":"T3","pred":"source","obj":"Test-merged"},{"subj":"T2","pred":"source","obj":"Test-merged"},{"subj":"T1","pred":"source","obj":"Test-merged"},{"subj":"T61051","pred":"source","obj":"Test-merged"},{"subj":"T8","pred":"source","obj":"Test-merged"},{"subj":"T7","pred":"source","obj":"Test-merged"},{"subj":"T62370","pred":"source","obj":"Test-merged"},{"subj":"T13111","pred":"source","obj":"Test-merged"},{"subj":"T35887","pred":"source","obj":"Test-merged"},{"subj":"T67239","pred":"source","obj":"Test-merged"},{"subj":"T4430","pred":"source","obj":"Test-merged"},{"subj":"T22906","pred":"source","obj":"Test-merged"},{"subj":"T4811","pred":"source","obj":"Test-merged"},{"subj":"T20097","pred":"source","obj":"Test-merged"},{"subj":"T61400","pred":"source","obj":"Test-merged"},{"subj":"T2953","pred":"source","obj":"Test-merged"},{"subj":"T20910","pred":"source","obj":"Test-merged"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1151,"end":1155},"obj":"gene:2703"},{"id":"T1","span":{"begin":1175,"end":1194},"obj":"disease:C0009691"},{"id":"T2","span":{"begin":1151,"end":1155},"obj":"gene:2703"},{"id":"T3","span":{"begin":1199,"end":1210},"obj":"disease:C0266544"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":199,"end":217},"obj":"HP_0000006"},{"id":"T2","span":{"begin":218,"end":237},"obj":"HP_0000519"},{"id":"T3","span":{"begin":229,"end":237},"obj":"HP_0000518"},{"id":"T4","span":{"begin":238,"end":249},"obj":"HP_0000482"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"}]},{"project":"Allie","denotations":[{"id":"SS1_20806042_2_0","span":{"begin":218,"end":258},"obj":"expanded"},{"id":"SS2_20806042_2_0","span":{"begin":260,"end":264},"obj":"abbr"},{"id":"SS1_20806042_5_0","span":{"begin":448,"end":473},"obj":"expanded"},{"id":"SS2_20806042_5_0","span":{"begin":475,"end":478},"obj":"abbr"},{"id":"SS1_20806042_7_0","span":{"begin":675,"end":704},"obj":"expanded"},{"id":"SS2_20806042_7_0","span":{"begin":706,"end":710},"obj":"abbr"}],"relations":[{"id":"AE1_20806042_2_0","pred":"abbreviatedTo","subj":"SS1_20806042_2_0","obj":"SS2_20806042_2_0"},{"id":"AE1_20806042_5_0","pred":"abbreviatedTo","subj":"SS1_20806042_5_0","obj":"SS2_20806042_5_0"},{"id":"AE1_20806042_7_0","pred":"abbreviatedTo","subj":"SS1_20806042_7_0","obj":"SS2_20806042_7_0"}],"attributes":[{"subj":"SS1_20806042_2_0","pred":"source","obj":"Allie"},{"subj":"SS2_20806042_2_0","pred":"source","obj":"Allie"},{"subj":"SS1_20806042_5_0","pred":"source","obj":"Allie"},{"subj":"SS2_20806042_5_0","pred":"source","obj":"Allie"},{"subj":"SS1_20806042_7_0","pred":"source","obj":"Allie"},{"subj":"SS2_20806042_7_0","pred":"source","obj":"Allie"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"20806042-0#20#24#gene2703","span":{"begin":20,"end":24},"obj":"gene2703"},{"id":"20806042-0#33#73#diseaseC0009691","span":{"begin":33,"end":73},"obj":"diseaseC0009691"},{"id":"20806042-0#33#73#diseaseC1861829","span":{"begin":33,"end":73},"obj":"diseaseC1861829"}],"relations":[{"id":"20#24#gene270333#73#diseaseC0009691","pred":"associated_with","subj":"20806042-0#20#24#gene2703","obj":"20806042-0#33#73#diseaseC0009691"},{"id":"20#24#gene270333#73#diseaseC1861829","pred":"associated_with","subj":"20806042-0#20#24#gene2703","obj":"20806042-0#33#73#diseaseC1861829"}],"attributes":[{"subj":"20806042-0#20#24#gene2703","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"20806042-0#33#73#diseaseC0009691","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"20806042-0#33#73#diseaseC1861829","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":647,"end":657},"obj":"DNAMutation:c|SUB|C|592|T"},{"id":"T2","span":{"begin":858,"end":865},"obj":"ProteinMutation:p|SUB|R|198|W"},{"id":"T3","span":{"begin":1071,"end":1078},"obj":"ProteinMutation:p|SUB|R|198|W"}],"attributes":[{"subj":"T1","pred":"source","obj":"tmVarCorpus"},{"subj":"T2","pred":"source","obj":"tmVarCorpus"},{"subj":"T3","pred":"source","obj":"tmVarCorpus"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubTator4TogoVar","color":"#93ecc4","default":true},{"id":"TEST-DiseaseOrPhenotypicFeature","color":"#eca993"},{"id":"TEST-ChemicalEntity","color":"#9396ec"},{"id":"TEST-OrganismTaxon","color":"#b0ec93"},{"id":"Test-SequenceVariant","color":"#ec93ca"},{"id":"Test-GeneOrGeneProduct","color":"#93e4ec"},{"id":"Test-merged-2","color":"#ecda93"},{"id":"Test-merged","color":"#c093ec"},{"id":"DisGeNET","color":"#93eca6"},{"id":"PubmedHPO","color":"#ec939a"},{"id":"Allie","color":"#93b4ec"},{"id":"DisGeNET5_gene_disease","color":"#ceec93"},{"id":"tmVarCorpus","color":"#ec93e8"}]}]}}