Genetic analysis of a child with Dyschromatosis symmetrica hereditaria
10.3760/cma.j.cn511374-20230612-00359
- VernacularTitle:遗传性对称性色素沉着症1例患儿的遗传学分析
- Author:
Qian MA
1
;
Lingyi CHE
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Keywords:
Pigmentation;
ADAR1 gene;
Dyschromatosis symmetrica hereditaria;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2024;41(7):849-852
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic features of a child with Dyschromatosis symmetrica hereditaria (DSH) and variant of the ADAR1 gene. Methods:A child who was admitted to the Department of Dermatology of the First Affiliated Hospital of Zhengzhou University in June 2020 due to irregular pigmented maculopapular rash on the dorsum of hands was selected as the study subject. Whole exome sequencing (WES) was carried out for the child and his similarly affected father, and Sanger sequencing was used to verify the candidate variant. SWISS-MODEL was used to predict the secondary and tertiary structures of the wild-type and mutant ADAR1 proteins.Results:The child, a 13-year-old boy, had symmetrical hyperpigmented and depigmented spots on the back of his hands and was clinically diagnosed with DSH. WES and Sanger sequencing results showed that he and his father had both harbored a heterozygous c. 2858dup (p.T954Dfs*20) truncating variant in exon 10 of the ADAR1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted as pathogenic (PVS1+ PM2_Supporting+ PM1+ PP3). Conclusion:The c. 2858dup (p.T954Dfs*20) variant of the ADAR1 gene probably underlay the DSH in this pedigree.
