Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia.
10.3760/cma.j.cn511374-20200714-00514
- VernacularTitle:一例伴脑桥和小脑发育不良的智力障碍和小头畸形患儿的临床表型及基因变异分析
- Author:
Ziwei WANG
1
;
Chuang LI
;
Yan ZHAO
;
Ling LI
;
Yuan LYU
;
Hong CUI
Author Information
1. Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. cuih@sj-hospital.org.
- Publication Type:Journal Article
- MeSH:
Cerebellum/abnormalities*;
Child;
Developmental Disabilities;
Family;
Humans;
Mental Retardation, X-Linked;
Microcephaly/genetics*;
Nervous System Malformations
- From:
Chinese Journal of Medical Genetics
2021;38(10):985-988
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
METHODS:Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member.
RESULTS:The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant.
CONCLUSION:The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.
