Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing

Publication date: January 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 104
Author(s): Ying Jia, Xiaoge Li, Dong Yang, Yi Xu, Ying Guo, Xin Li
The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.



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