AUTHOR=Xie Guilan , Zhang Yan , Yang Wenfang , Yang Liren , Wang Ruiqi , Xu Mengmeng , Sun Landi , Zhang Boxing , Cui Xiaoyi 

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

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.856636

DOI=10.3389/fgene.2022.856636

ISSN=1664-8021

ABSTRACT=Objective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCH are ascribed to CASK mutations, while few were revealed in Chinese. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH.
Methods: A 3-year-old Chinese female proband with MICPCH and her parents were included. Clinical data was collected from the medical records and recalled by the proband’ mother. Whole genome sequencing and Sanger sequencing were used to found the pathogenic mutation of MICPCH.
Results: The proband presented with postnatal progressive microcephaly, cerebellar hypoplasia, intellectual disability, motor and language development retardation and limb hypertonia. Genetic analysis indicated that there was a novel compound heterozygote nonsynonymous mutation, c.755T>C(p.Leu252Pro) in exon8 of CASK gene in the proband, but not in her parents. This CASK mutation has not been reported in other databases.
Conclusion: This study broadens the mutation spectrum of CASK gene, and is of great value for precise prenatal diagnosis and genetic counseling.