Clin Lab. 2024 Nov 1;70(11). doi: 10.7754/Clin.Lab.2024.240537.
Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant disease, caused by muta-tions in the ABCC8 gene, chromosome 11.
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.
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.
For patients with high suspicion of MODY, genetic test should conducted to improve their quality of life.
青年发病的成年型糖尿病（MODY）是一种常染色体显性遗传疾病，由 ABCC8 基因突变引起，定位于 11 号染色体。
对 1 例疑似 ABCC8 基因突变引起的 MODY 患者进行全基因组外显子高通量测序，对选定的变异位点进行 Sanger 测序验证。
在该先证者及其父亲的 ABCC8 基因（Chr11-174494701）第 15 外显子上均发现 1 个杂合突变 c.2060C>T（p.T687M）。根据临床特征，该突变最初被认为与 MODY 相关。
对于高度怀疑 MODY 的患者，应进行基因检测，以改善其生活质量。
