Nyilo Purnami, - and Puguh Setyo Nugroho, - and Hamam Kusumagani, - (2021) Genetic Screening for Children with Hearing Impairment in Surabaya Special School. In: Proceeding Book 19th ASEAN ORL-HNS Congress. Yayasan Perhati Sumatera Utara, Sumatera Utara, pp. 11-12. ISBN 978-623-98585-0-6

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Abstract

Introduction: Congenital deafness can be caused by genetic, environmental, and the interaction of these two factors. Genetic factors play about 50-75% as a cause of hearing loss. Hearing loss related to genetic factors/Congenital Hearing Loss (CHL) can be found in two forms, namely:Syndrome Hearing Loss (SHL) and Non-Syndromic Hearing Loss (NSHL). Objective: to initiate the genetic hearing loss screening in Surabaya, to knowing the prevalence of genetic hearing loss in Surabaya special school, identify the gene mutation for providing the next genetic mapping in Indonesia and identify the gene mutation in family (pedigree). Methods: The design of the research are observational, cross sectional, and randomized Study. The sample was examinate by otoscopy and pure-tone audiometry. Blood samples were obtained and DNA was extracted from 5 ml blood using standard procedures. Results: There is 49 children, we found 3 genetic mutation (PDS or SLC26A, GJB or connexin 26 and mRNA or MTRNR1 gene mutation. Conclusion: Autosomal recessive mutations in the GJB2/connexin 26 gene are common in nonsyndromic hearing loss The genetic hearing loss screening has been initiated in students of Deaf school in Surabaya. The prevalence was found in 3 (6,1%) students from total 49 students. Mutation varian of genetic Hearing Loss was detected in each 3 children in scholl, included the most prevalence varians: GJB2, SLC24A4, and 12SRNA mitokondria.

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