Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2024-01-10 Print Date: 2023-12-01 DOI:10.1101/mcs.a006305

Hyunji Kim, Hwa Young Kim, Jae Hyun Kim, Soo Hyun Seo, Kyung Un Park

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Abstract

The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a mutation in a single gene, is often uncertain until genetic testing is performed. We report a 13-yr-old Korean boy who was initially diagnosed with type 2 diabetes (T2DM). MODY was suspected because of his nonobese body habitus and family history of multiple affected members. Targeted panel sequencing of all MODY-related genes was performed using the NextSeq 550Dx platform (Illumina). Sanger sequencing was performed using blood samples from the parents, siblings, and other relatives. A frameshift variant in the 3' region of the last exon of PDX1 was detected in the patient and his family members with diabetes. PP1_Moderate criterion was applied and this variant was confirmed to be the genetic cause of diabetes in the family and classified as likely pathogenic. The study highlights the importance of genetic testing for nonobese, early-onset diabetic patients with multiple affected family members. Increased awareness and aggressive genetic testing for MODY are needed.

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一个韩国家族中的新致病性PDX1基因变体，该家族患有年轻人的成熟型糖尿病。

年轻人成熟期糖尿病（MODY）是一种由单一基因变异引起的单基因型糖尿病，在进行基因检测之前，其诊断通常是不确定的。我们报告了一名13岁的韩国男孩，他最初被诊断为2型糖尿病（T2DM）。莫迪被怀疑是由于他的非肥胖身体习惯和多个受影响成员的家族史。使用NextSeq 550Dx平台（Illumina，San Diego，CA，USA）对所有MODY相关基因进行靶向面板测序。桑格测序是使用来自父母、兄弟姐妹和其他亲属的血液样本进行的。在糖尿病患者及其家庭成员中检测到PDX1最后一个外显子3'区的移码变体。采用PP1_中度标准，该变体被证实是该家族糖尿病的遗传原因，并被归类为可能的致病性。这项研究强调了基因检测对有多个受影响家庭成员的非肥胖早发糖尿病患者的重要性。需要提高对MODY的认识和积极的基因检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.20

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0.00%

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期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.