Target-enriched massively parallel sequencing for genetic diagnosis of hereditary hearing loss in patients with normal array CGH result
KW Choy1, Y Cao1, STS Lam2, FM Lo2, CC Morton3, TY Leung1
1 Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong
2 Department of Health, Hong Kong
3 Department of Pathology, Harvard Medical School, USA
1. In our cohort, 15 common hearing-loss mutations with a high carrier frequency (15.9%) were screened; GJB2 c.109G>A was the most common mutation (10.9%).
2. For patients with hearing loss who were negative for the 15 common mutations, our hearing-loss target capture panel combined with a massively parallel sequencing approach increased detection of pathogenic mutations or likely pathogenic variants by 21%.