A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family
| Autor: | Jie Wen, Wu Li, Meng Li, Lingyun Mei, Yuyuan Deng, Zhijie Niu, Yalan Liu, Xuewei Zhang, Chufeng He, Yong Feng, Shushan Sang, Xinzhang Cai, Hongsheng Chen, LiangLiang Fan, Taoxi Li, Jie Ling |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Adult Male China dbSNP Hearing loss Hearing Loss Sensorineural Muscle Proteins Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide 03 medical and health sciences Young Adult 0302 clinical medicine Asian People Databases Genetic Exome Sequencing otorhinolaryngologic diseases Genetics medicine Humans Exome Gene Genetics (clinical) Genetic Diseases X-Linked medicine.disease Pedigree 030104 developmental biology Case-Control Studies Mutation (genetic algorithm) Mutation Sensorineural hearing loss Female medicine.symptom Novel mutation 030217 neurology & neurosurgery |
| Zdroj: | Journal of human genetics. 63(6) |
| ISSN: | 1435-232X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink