Summary

Identifying the underlying genetic cause of hereditary hearing loss helps guide patient care, treatment options, and family counseling.  In a retrospective study of 898 patients, we evaluated the utility of next-generation sequencing (NGS) based panel testing for hereditary hearing loss with tailored approaches for difficult-to-sequence (DTS) genes and inclusion of the mitochondrial genome. Thirty percent of patients received a positive result. Copy number variants made up 16% of positive cases, and over one third of these affected only part of a gene. Genes located in difficult-to-sequence regions with known segmental duplication accounted for about 14.5% of positive cases. Inclusion of the mitochondrial genome (305 patients) accounted for another 2% of positive cases. Overall, the study shows that including challenging gene regions and the mitochondrial genome improves the ability to establish the genetic cause for hereditary hearing loss. 

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Authors:

Lauren Moissiy, Kimberly Gall, Sari Tuupanen, Laura Sarantaus, Marta Gandia, Hatice Duzkale, Inka Saarinen, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo