Wang Nuoyang, Chen Canming, Tong Ming, Li Qian, Liu Li, Hu Suwei
Department of Ophthalmology and Otorhinolaryngology, Yangzhou Maternal and Child Health Care Hospital, the Affiliated Hospital of Yangzhou University Medical College, Yangzhou, Jiangsu 225002 China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):174-177. doi: 10.3760/cma.j.cn511374-20200331-00224.
To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).
Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.
The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.
The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
探究一个患常染色体显性迟发性非综合征性听力损失（NSHL）的中国家系的遗传基础。
收集该家系的临床资料。从先证者和其他家庭成员的外周血样本中提取基因组DNA。对19396个基因进行三联体全外显子测序以鉴定潜在的致病变异。进行桑格测序以验证该家系中的候选变异。
发现先证者及其父亲携带DFNA5基因的c.1183+1delG p.?变异。该变异在该家系中被证实与疾病表型共分离。
DFNA5基因的c.1183+1delG p.?变异可能是该家系迟发性NSHL的病因。上述发现使得能够对该家系进行准确的遗传咨询。
