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Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome
Ying Jia1, Xiaoge Li2, Dong Yang3
1Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, China.
Abstract:
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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