中华耳科学杂志2026，Vol.24Issue(4)：313-318,6.DOI:10.3969/j.issn.1672-2922.2026.04.005
伴随听力损失的3p缺失并3q重复综合征患者的临床表型与遗传学分析
Clinical phenotype and genetic analysis in patients with 3p deletion and 3q duplication syndrome and hearing loss
摘要
Abstract
Objective To identify the sources of chromosomal copy number variations in patients with 3p deletion and 3q duplication syndromes associated with hearing loss,and their phenotypic correlations.Methods Medical history was collected in probands with typical abnormalities and hearing loss who visited the Department of Otorhinolaryngology,Affiliated Children Hospital of Zhengzhou University in May 2023 with follow up of 2 years after obtaining consent from guardians.Whole exome gene testing was performed with high-throughput sequencing detection technology.DNA was extracted from peripheral blood and fragmented,and probe capture was used to target the exons and adjacent regions of the genes.Sequencing was conducted on the variation sites on a high-throughput sequencing platform.Clinically relevant variations were screened through combined database searching,clinical characteristics analysis and gene data analysis algorithms.Results Main clinical manifestations in the proband included bilateral severe sensorineural hearing loss,congenital heart disease,growth retardation and congenital nails malformation.A deletion of approximately 8.67 Mb at the position of seq[GRCh37]del(3)(p26.3-p25.3)(chr3:g.361459-9036207del);and a duplication of approximately 30.42 Mb at the position of seq[GRCh37]dup(3)(q26.1-q29)(chr3:g.167344639-197765538)were detected.Conclusions The deletion at the end of the short arm of chromosome 3(p26.3-p25.3)and the duplication of the long arm of chromosome 3(q26.1-q29)may be the genetic cause of the abnormal phenotypes in 3p deletion and 3q duplication syndromes.This is the first clinical report of hearing loss associated with this disease,enriching its clinical phenotypic spectrum.关键词
听力损失/3p缺失综合征/3q重复综合征/高通量测序Key words
hearing loss/3p deletion syndrome/3q duplication syndrome/high-throughput sequencing引用本文复制引用
马丹丹,杨伟光,王燕楠,任红波,段清川,张杰,王素芳..伴随听力损失的3p缺失并3q重复综合征患者的临床表型与遗传学分析[J].中华耳科学杂志,2026,24(4):313-318,6.基金项目
河南省自然科学基金面上项目(252300420264) （252300420264）
