Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Objective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCHs are ascribed to CASK mutations, while few are revealed in Chinese patients. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH.Metho...

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Bibliographic Details
Main Authors: Guilan Xie, Yan Zhang, Wenfang Yang, Liren Yang, Ruiqi Wang, Mengmeng Xu, Landi Sun, Boxing Zhang, Xiaoyi Cui
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
CASK gene
whole exome sequencing
microcephaly
cerebellar hypoplasia
intellectual disability
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.856636/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.856636/full

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