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OA

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.