p.(Gly111Arg) ABCC8基因变异：印度阿加瓦尔社区中导致先天性高胰岛素血症的奠基者突变
The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.
作者信息
Jain Vandana, Radha Venkatesan, Mohan Viswanathan, Wakeling Matthew N, Bennett Jasmin J, Flanagan Sarah E
机构信息
Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, Delhi, India.
Department of Molecular Genetics, Madras Diabetes Research Foundation (MDRF), Chennai, Tamil Nadu, India.
出版信息
Clin Genet. 2025 Mar;107(3):364-365. doi: 10.1111/cge.14657. Epub 2024 Nov 27.
Loss-of-function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.
功能丧失性ABCC8变异是先天性高胰岛素血症最常见的病因。在对我们的数据库进行系统检索时，在26名个体中发现了p.(Gly111Arg) ABCC8变异，其中23名来自印度阿加瓦尔社区。单倍型分析随后证实p.(Gly111Arg)是阿加瓦尔人群中的一个始祖变异。
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