Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
Center for Medical Genetics, Central South University, Changsha, China.
J Hum Genet. 2018 Jun;63(6):723-730. doi: 10.1038/s10038-018-0443-x. Epub 2018 Mar 20.
X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SLC26A4, a novel truncated variant of SMPX, c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar Submission ID: SUB3136126), was identified by whole-exome sequencing. This variant was co-segregated with hearing loss in the entire family and was absent in 576 unrelated ethnically and geographically matched controls. We also detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene.
X 连锁遗传非常罕见，据估计仅占所有非综合征性听力损失病例的 1-5%。我们发现一个来自中国的家系呈 X 连锁非综合征性听力损失遗传。在对三个听力损失相关基因 GJB2、mtDNA12srRNA 和 SLC26A4 的 10 个常见变异进行排他性分析后，通过全外显子组测序鉴定出 SMPX 的一种新型截断变异 c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar 提交 ID：SUB3136126)。该变异在家系中与听力损失共分离，在 576 名无关的种族和地理匹配对照中不存在。我们还在两名听力正常的男性对照中检测到单核苷酸变异 SMPX c.55A>G (p.Asn19Asp)，该变异已在单核苷酸多态性 (dbSNP) (rs759552778) 和外显子组聚合联盟 (ExAC) 数据库中注释为罕见变异。这项研究丰富了 SMPX 基因的突变谱。
