Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome.
10.3760/cma.j.cn511374-20221013-00685
- VernacularTitle:Raynaud-Claes综合征患儿1例的
CLCN4基因变异分析
- Author:
Linfei LI
1
;
Shuying LUO
;
Shiyue MEI
;
Qing SHANG
;
Wancun ZHANG
;
Xiaoman ZHANG
;
Lei LIU
;
Zhi LEI
;
Yaodong ZHANG
Author Information
1. Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Zhengzhou, Henan 450018, China. syek@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Male;
Pregnancy;
Chloride Channels/genetics*;
Genetic Counseling;
Genetic Testing;
Genomics;
High-Throughput Nucleotide Sequencing;
Mutation;
Child, Preschool
- From:
Chinese Journal of Medical Genetics
2023;40(10):1280-1283
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS).
METHODS:A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed.
RESULTS:The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting).
CONCLUSION:The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.
