摘要
目的研究X-连锁先天性角化不良(X-linked DC)家系中患者及其家系成员的基因突变情况,为完善该病的发病机制和产前诊断咨询提供生物学依据。方法收集X-连锁DC患者及家系成员共11例的临床资料,对患者及其4例家系成员外周血DNA进行全基因组外显子测序及Sanger测序检验突变位点。结果患者DKC1基因发生c.109_111del(p.Leu37del)突变,该突变为框内缺失突变,导致其第37号氨基酸——亮氨酸缺失,患者母亲和外祖母为携带者,而其弟弟、父亲均未检测到该突变。结论DKC1基因c.109_111del的半合子框内缺失突变是该X-连锁DC患者的发病原因。
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 disease.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_111del in-frame deletion in DKC1 is the causative mutation in this X-DC patient.
作者
周欣
罗权
熊斯颖
叶瑞贤
张锡宝
ZHOU Xin;LUO Quan;XIONG Siying;YE Ruixian;ZHANG Xibao(Guangzhou Dermatology Hospital,Guangzhou 510095,China)
出处
《皮肤性病诊疗学杂志》
2025年第9期619-623,共5页
Journal of Diagnosis and Therapy on Dermato-venereology
基金
广州市基础研究计划市校(院)企联合资助专题(2023A03J0942)。
