{"title":"Pedigree Analysis of Maturity-Onset Diabetes of the Young: ABCC8 Mutations?","authors":"Xiaofang Fan, Lingxiao Wang, Pingping Hong","doi":"10.7754/Clin.Lab.2024.240537","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant disease, caused by muta-tions in the ABCC8 gene, chromosome 11.</p><p><strong>Methods: </strong>A case suspected of MODY due to an ABCC8 mutation was examined using whole-genome exon high-throughput sequencing. Selected variant sites were validated via Sanger sequencing.</p><p><strong>Results: </strong>A heterozygous mutation c.2060C>T (p.T687M) in exon 15 of the ABCC8 gene (Chr11-174494701) was identified in both the proband and the father. This mutation was initially linked to MODY based on clinical fea¬tures.</p><p><strong>Conclusions: </strong>For patients with high suspicion of MODY, genetic test should conducted to improve their quality of life.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"70 11","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.240537","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant disease, caused by muta-tions in the ABCC8 gene, chromosome 11.
Methods: A case suspected of MODY due to an ABCC8 mutation was examined using whole-genome exon high-throughput sequencing. Selected variant sites were validated via Sanger sequencing.
Results: A heterozygous mutation c.2060C>T (p.T687M) in exon 15 of the ABCC8 gene (Chr11-174494701) was identified in both the proband and the father. This mutation was initially linked to MODY based on clinical fea¬tures.
Conclusions: For patients with high suspicion of MODY, genetic test should conducted to improve their quality of life.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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