Regie Lyn P. Santos-Cortez, Talitha Karisse L. Yarza, Tori C. Bootpetch, Ma. Leah C. Tantoco, Karen L. Mohlke, Teresa Luisa G. Cruz, Mary Ellen Chiong Perez, Abner L. Chan, Nanette R. Lee, Celina Ann M. Tobias-Grasso, Maria Rina T. Reyes-Quintos, Eva Maria Cutiongco-De la Paz, Charlotte M. Chiong
Background: Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Methods: Clinical and exome data from 15 children with hearing loss were reviewed. Standard tools for annotating variants were used and rare, putatively deleterious variants were selected from the exome data. Results: In 15 children, 21 rare damaging variants in 17 genes were identified, including: 14 known hearing loss or neurodevelopmental genes, 11 of which had novel variants; and three candidate genes IST1, CBLN3 and GDPD5, two of which were identified in children with both hearing loss and enlarged vestibular aqueducts. Patients with variants within IST1 and MYO18B had poorer outcomes after cochlear implantation. Conclusion: Our findings highlight the importance of identifying novel variants and genes in ethnic groups that are understudied for hearing loss. © 2021 by the authorsLicensee MDPI, Basel, Switzerland.
Department of Otolaryngology—Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, 80045, CO, United States; Center for Children’s Surgery, Children’s Hospital Colorado, Aurora, 80045, CO, United States; Philippine National Ear Institute, University of the Philippines (UP) Manila–National Institutes of Health (NIH), Manila, 1000, Philippines; Newborn Hearing Screening Reference Center, UP Manila—NIH, Manila, 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine—Philippine General Hospital (UP-PGH), Manila, 1000, Philippines; Department of Genetics, University of North Carolina, Chapel Hill, 27599, NC, United States; Department of Anesthesiology, UP Manila College of Medicine, Manila, 1000, Philippines; Office of Population Studies and Department of Anthropology, Sociology and History, University of San Carlos, Cebu City, 6000, Philippines; MED-EL, Innsbruck, 6020, Austria; Institute of Human Genetics, UP Manila—NIH, Manila, 1000, Philippines; Philippine Genome Center, UP Diliman Campus, Quezon City, 1101, Philippines; UP Manila College of Medicine, Manila, 1000, Philippines
