Feng Menglong, Zhou Kai, Huang Lancheng, Tang Fengzhu, Qu Shenhong, Lu Qiutian, Chen Ruichun, Li Fengti
Graduate School of Guangxi University of Traditional Chinese Medicine, Nanning, Guangxi 530200, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):454-457. doi: 10.3760/cma.j.cn511374-20200609-00420.
To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).
Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.
Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.
Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.
探究一个患非综合征性听力损失（NSHL）的中国家系的遗传基础。
应用商业化基因芯片检测与先天性耳聋相关的常见突变。对基因芯片检测结果为阴性的患者进行全外显子测序。候选变异通过桑格测序进行验证。
发现该家系中的两名患者携带TRIOBP基因的复合杂合变异，即c.3299C>A和c.5185-2A>G。他们的父母听力正常，均为上述变异的杂合携带者。这两个变异在该家系中均与疾病表型共分离，且此前未见报道。
TRIOBP基因的致病变异是NSHL的一个重要因素。本研究中发现的新变异c.5185-2A>G和c.3299C>A丰富了TRIOBP基因的突变谱，为该家系实现了分子诊断和遗传咨询。
