全外显子组测序在一名类雷特综合征患者中发现了一个新生错义变异。
Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.
作者信息
Kaur Simranpreet, Van Bergen Nicole J, Gold Wendy Anne, Eggers Stefanie, Lunke Sebastian, White Susan M, Ellaway Carolyn, Christodoulou John
机构信息
Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia.
Department of Paediatrics University of Melbourne Parkville Vic. Australia.
出版信息
Clin Case Rep. 2019 Nov 12;7(12):2476-2482. doi: 10.1002/ccr3.2511. eCollection 2019 Dec.
Abstract
Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome-like (RTT-like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT-like phenotypes.
摘要
通过全外显子组测序，我们在一名具有雷特综合征样（RTT样）表型的患者中发现了EEF1A2基因的一个致病变异，进一步证实了EEF1A2与雷特综合征（RTT）及RTT样表型之间的关联。
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