Nearly 85% of maternally inherited diabetes and deafness (MIDD) are caused by the m.3243A>G mutation in the mitochondrial DNA. However, the clinical phenotypes of MIDD may also be influenced by the nuclear genome, this study aimed to investigate nuclear genome variants that influence clinical phenotypes associated with m.3243A>G mutation in MIDD based on whole-genome sequencing of the patients belonging to pedigrees.

中文翻译：

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通过亲缘图卷积网络鉴定线粒体糖尿病的八个基因组保护等位基因

近 85% 的母系遗传糖尿病和耳聋 (MIDD) 是由线粒体 DNA 中的 m.3243A>G 突变引起的。然而，MIDD的临床表型也可能受到核基因组的影响，本研究旨在基于家系患者的全基因组测序，探讨影响MIDD m.3243A>G突变相关临床表型的核基因组变异。