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患儿复合杂合 GNB5 变异致伴心律失常的智力发育障碍

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.

机构信息

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.

Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

出版信息

Clin Genet. 2018 Jun;93(6):1254-1256. doi: 10.1111/cge.13194. Epub 2018 Jan 25.

DOI:10.1111/cge.13194
PMID:29368331
Abstract

Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA), from non-consaguineous family. Three-dimensional modelling and in silico predictions suggest that GNB5 variants are causative of the phenotype, extending the number of IDDCA patients so far identified.

摘要

从非近亲家庭的一名患有智力发育障碍伴心律失常（IDDCA）的患者中鉴定出一种新型 GNB5 复合杂合突变。三维建模和计算机预测表明，GNB5 变体是表型的致病原因，这增加了迄今为止已鉴定出的 IDDCA 患者数量。

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