Comprehensive Molecular Screening in Chinese Usher Syndrome Patients

• DOI: 10.1167/iovs.17-23312
• Publication Date: 2018-04-07T01:30:57Z
• Authors: Tengyang Sun; Ke Xu; Yanfan Ren; Yue Xie; Xiaohui Zhang; Lu Tian; Yang Li
• Keywords: Usher syndrome; Proband; Sanger sequencing

Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives this study were determine the mutation spectrum in cohort Chinese patients with USH describe clinical features mutations.A total 119 probands who clinically diagnosed recruited for genetic analysis. All underwent ophthalmic examinations. A combination molecular screening methods, including targeted next-generation sequencing, Sanger-DNA multiplex ligation probe amplification assay, was used detect mutations.We found biallelic mutations 92 (77.3%), monoallelic 5 (4.2%), 1 hemizygous patient (0.8%), resulting an overall detection rate 78.2%. Overall, 132 distinct disease-causing involving seven (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, USH2A) genes; other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, TULP1); nonsyndromic hearing loss gene (MYO15A) identified, 78 novel. Mutations MYOA7 responsible 60% USH1 families, followed by PCDH15 (20%) USH1C (10%). USH2A accounted 67.7% USH2 c.8559-2A>G most frequent one, accounting 19.1% identified alleles.Our results confirm that each differs from those populations. formation profile population will enable precise diagnosis future.