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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.

DOI:10.1111/cge.14657
PMID:39601258
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11790514/
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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3313/11790514/63ed1d886e3c/CGE-107-364-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3313/11790514/63ed1d886e3c/CGE-107-364-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3313/11790514/63ed1d886e3c/CGE-107-364-g001.jpg

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本文引用的文献

1
International Guidelines for the Diagnosis and Management of Hyperinsulinism.国际高胰岛素血症诊断与管理指南。
Horm Res Paediatr. 2024;97(3):279-298. doi: 10.1159/000531766. Epub 2023 Jul 14.
2
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.300 例先天性高胰岛素血症患者的临床和分子特征。
Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr.
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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
下一代测序揭示了导致胰岛素过度分泌的深内含子隐匿性 ABCC8 和 HADH 剪接启动子突变，其机制为假外显子激活。
Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.
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Population structure of Aggarwals of north India as revealed by molecular markers.分子标记揭示的印度北部阿加瓦尔家族的群体结构
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A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.一种使磺脲类受体失活的点突变导致了芬兰婴儿期严重形式的持续性高胰岛素血症性低血糖症。
Diabetes. 1999 Feb;48(2):408-15. doi: 10.2337/diabetes.48.2.408.