Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay
10.3760/cma.j.cn511374-20230513-00281
- VernacularTitle:遗传性对称性色素异常症伴发育迟缓一个家系的 ADAR基因变异分析
- Author:
Yu ZHANG
1
;
Zheng CHEN
;
Jiandong WANG
;
Guangshuai WEI
;
Jiechao NIU
;
Yao WANG
;
Huaili WANG
Author Information
1. 郑州大学第一附属医院儿童医院，河南省儿童癫痫与免疫医学重点实验室，河南省儿童神经系统疾病临床诊治中心，郑州 450052
- Keywords:
Dyschromatosis symmetrica hereditaria;
Developmental delay;
ADAR gene;
Variant
- From:
Chinese Journal of Medical Genetics
2024;41(5):591-595
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay.Methods:A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for over 2 years was selected as the study subject. Clinical data of the child and his pedigree (11 individuals from three generations) was collected. The child was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing.Results:The child, a two-year-and-seven-month-old male, had hyper- and hypopigmentation on his hands, feet and face, in addition with delayed development. All members of his pedigree had typical presentation of DSH. A heterozygous c. 2657G>A variant was found in exon 8 of the ADAR gene in the child, his mother, and elder sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP1+ PP3). Conclusion:The c. 2657G>A variant of the ADAR gene probably underlay the DSH in this pedigree.
