皮肤性病诊疗学杂志2025，Vol.32Issue(9)：619-623,5.DOI:10.3969/j.issn.1674-8468.2025.09.001
X连锁先天性角化不良家系的基因突变研究
A study on gene mutation in a family with X-linked dyskeratosis congenita
摘要
Abstract
Objective To investigate the genetic mutations in a patient and patient's family members from an X-linked dyskeratosis congenita(X-linked DC)pedigree,in order to provide a biological basis for understanding the pathogenesis and prenatal diagnostic counseling of this dis-ease.Methods Clinical data were collected from 11 family members of a patient with X-linked DC.Whole-exome sequencing and Sanger sequencing were performed on peripheral blood DNA from the patient and 4 family members to identify pathogenic variants.Results A c.109_111del(p.Leu37del)mutation was identified in the DKC1 gene of the patient.This mutation is an in-frame deletion,resulting in the loss of leucine at amino acid position 37.The patient's mother and maternal grandmother were carriers of the mutation,while no mutation was detected in either the patient's younger brother or father.Conclusion The hemizygous c.109_111 del in-frame deletion in DKC1 is the causative mutation in this X-DC patient.关键词
先天性角化不良/DKC1基因/基因突变Key words
dyskeratosis congenita/DKC1 gene/gene mutation引用本文复制引用
周欣,罗权,熊斯颖,叶瑞贤,张锡宝..X连锁先天性角化不良家系的基因突变研究[J].皮肤性病诊疗学杂志,2025,32(9):619-623,5.基金项目
广州市基础研究计划市校(院)企联合资助专题(2023A03J0942) （院）
