Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations

Background: Autosomal dominant mental retardation type 5 (MRD5), a rare neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), developmental delay (DD), and epilepsy predominantly, is caused by a heterozygous mutation in the SYNGAP1 gene. SYNGAP1 mutations have been rarely...

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Bibliographic Details
Main Authors: Yanxin Wang, Yuqiang Lv, Zilong Li, Min Gao, Xiaomeng Yang, Yue Li, Jianguo Shi, Zaifen Gao, Yi Liu, Zhongtao Gai
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Genetics
Subjects:
autosomal dominant mental retardation type 5
mutation
SYNGAP1
intellectual disability
developmental delay
next-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.957915/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.957915/full

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