Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier′s disease
10.3760/cma.j.cn511374-20240908-00477
- VernacularTitle:汉族毛囊角化病一个家系的临床表型及遗传学分析
- Author:
Shide ZHANG
1
;
Miao JIANG
;
Rong LIN
;
Jiahui JIN
;
Jingjun ZHAO
Author Information
1. 福建中医药大学附属福鼎医院皮肤科，福鼎 355200
- Publication Type:Journal Article
- Keywords:
Darier′s disease;
ATP2A2 gene;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2025;42(2):206-211
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical phenotype and genetic characteristics of a Chinese Han pedigree with Darier′s disease(DD).Methods:A DD pedigree, who visited Tongji Hospital of Tongji University on October 22, 2023, was selected as the study subject. Clinical data of the pedigree were collected, and whole-genome exom sequencing was performed on the proband. Suspected variant loci were screened, and Sanger sequencing was used to validate the variant in pedigree members. Bioinformatics analysis was performed on the variant loci. This study was approved by the Medical Ethics Committee of Tongji Hospital of Tongji University(Ethics No.K-W-2024-004).Results:① The proband is a 67-year-old female with clinical features of DD, such as keratotic papules in sebaceous areas. ② Whole-genome exom sequencing revealed a missense variant, c. 68G>A (p.Gly23Glu), in the exon 1 of ATP2A2 gene of the proband. Sanger sequencing showed that the proband′s eldest daughter also carried this variant. This variant was not detected in other pedigree members, indicating a co-segregation of the variant with the disease phenotype in the pedigree. ③ According to the interpretation principles of gene variants by the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic (PS1+ PM1+ PM2_Supporting+ PP1+ PP3+ PP4). Conclusions:The c. 68G>A (p.Gly23Glu) variant in the ATP2A2 gene may be the genetic cause of the disease in this pedigree. This finding further enriches the genetic variant spectrum in DD patients and provides a basis for clinical diagnosis and genetic counseling for patients.
