The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-11-27 DOI:10.1111/cge.14657

Vandana Jain, Venkatesan Radha, Viswanathan Mohan, Matthew N Wakeling, Jasmin J Bennett, Sarah E Flanagan

引用次数: 0

Abstract

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.

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p.(Gly111Arg) ABCC8 变异：印度 Agarwal 群体中导致先天性高胰岛素血症的致病基因突变。

功能缺失型 ABCC8 变异是导致先天性高胰岛素血症的最常见原因。在对我们的数据库进行系统搜索后，在 26 个个体中发现了 p.(Gly111Arg) ABCC8 变体，其中 23 个来自印度 Agarwal 群体。单倍型分析随后证实 p.(Gly111Arg) 是 Agarwal 群体中的创始变异。

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

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease