Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

Autor:	Santos-Cortez RLP; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Center for Children's Surgery, Children's Hospital Colorado, Aurora, CO 80045, USA.; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila 1000, Philippines., Yarza TKL; 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., Bootpetch TC; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Tantoco MLC; 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., Mohlke KL; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Cruz TLG; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila 1000, Philippines.; Department of Otorhinolaryngology, UP Manila College of Medicine-Philippine General Hospital (UP-PGH), Manila 1000, Philippines., Chiong Perez ME; Department of Anesthesiology, UP Manila College of Medicine, Manila 1000, Philippines., Chan AL; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila 1000, Philippines.; Department of Otorhinolaryngology, UP Manila College of Medicine-Philippine General Hospital (UP-PGH), Manila 1000, Philippines., Lee NR; Office of Population Studies and Department of Anthropology, Sociology and History, University of San Carlos, Cebu City 6000, Philippines., Tobias-Grasso CAM; MED-EL, 6020 Innsbruck, Austria., Reyes-Quintos MRT; 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., Cutiongco-de la Paz EM; Institute of Human Genetics, UP Manila-NIH, Manila 1000, Philippines.; Philippine Genome Center, UP Diliman Campus, Quezon City 1101, Philippines., Chiong CM; 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.; UP Manila College of Medicine, Manila 1000, Philippines.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2021 Apr 13; Vol. 12 (4). Date of Electronic Publication: 2021 Apr 13.
DOI:	10.3390/genes12040566
Abstrakt:	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.
Databáze:	MEDLINE
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