A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

作者：Ma, Di; Shen, Shanshan; Gao, Hui; Guo, Hui; Lin, Yumei; Hu, Yuhua; Zhang, Ruanzhang; Wang, Shayan^*

来源：BMC Medical Genetics, 2018, 19(1): 133.

DOI：10.1186/s12881-018-0657-y

• Hearing loss
• DFNB3
• MYO15A
• Nonsense mutation

Background: Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family. @@@ Case presentation: The proband with profound hearing loss had received audiometric assessments. We performed target region capture and next generation sequencing of 127 known deafness-related genes because the individual tested negative for hotspot variants in the GJB2, GJB3, SLC26A4, and MTRNR1 genes. We identified a novel c.6892C > T (p. R2298*) nonsense mutation and a c.10251_10253delCTT (p.F3420del) deletion in MYO15A. Sanger sequencing confirmed that both mutations were co-segregated with hearing loss in this family and were absent in 200 ethnically matched controls. Bioinformatics analysis and protein modeling indicated the deleterious effects of both mutations. The p. R2298* mutation leads to a truncated protein and a loss of the functional domains. @@@ Conclusions: Our results demonstrated that the hearing loss in this case was caused by novel, compound heterozygous mutations in MYO15A. The p. R2298* mutation in MYO15A was reported for the first time, which has implications for genetic counseling and provides insight into the functional roles of MYO15A mutations.

• 出版日期2018-8-1
• 单位暨南大学