Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

Abstract Background To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated ID. Methods Considering the large number of ID-associated genes, we...

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Bibliographic Details
Main Authors: Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen, Tao Cai
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
MECP2
Intellectual disability (ID)
Rett syndrome
Whole-exome sequencing (WES)
de novo mutation (DNM)
Online Access:http://link.springer.com/article/10.1186/s12881-020-01042-w

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