A study on gene mutation in a family with X-linked dyskeratosis congenita
ZHOU Xin
LUO Quan
XIONG Siying
YE Ruixian
ZHANG Xibao
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.
Keywords：dyskeratosis congenitaDKC1 genegene mutation
Publication Date：2025-09-28
Online Publishing Date：2025-10-29(First online date of this platform, not the publication date of the document)
Pages：5( 619-623 )