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Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.
Mehregan, Hoda; Mohseni, Marzieh; Jalalvand, Khadijeh; Arzhangi, Sanaz; Nikzat, Nooshin; Banihashemi, Sussan; Kahrizi, Kimia; Najmabadi, Hossein.
Afiliación
  • Mehregan H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Jalalvand K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Nikzat N; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Banihashemi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: hnajm12@yahoo.com.
Int J Pediatr Otorhinolaryngol ; 117: 115-126, 2019 Feb.
Article en En | MEDLINE | ID: mdl-30579064
OBJECTIVE: Hereditary hearing loss is the most common neurosensory disorder in humans caused by myriad mutations in numerous genes. Autosomal recessive nonsyndromic hearing loss (ARNSHL) accounts for 80% of hearing impairments of genetic origin and is quite prevalent in societies with a high rate of consanguinity. In the current study, we investigated the causes of sensorineural hearing loss in 24 unrelated Iranian families who were mainly consanguineous and had at least two affected children. METHODS: All probands were initially screened for GJB2 mutations, as the most common causes of ARNSHL in Iran. Verified GJB2-negative samples were subsequently subjected to whole exome sequencing (WES) to identify the underlying causes of hearing impairment, and the variants identified in each family were further confirmed by Sanger sequencing. RESULTS: WES revealed three previously unreported mutations in MYO15A, the gene encoding the unconventional myosin 15 (Myo15). All variants identified, c.C6436T (p.R2146W), c.C9584G (p.P3195R) and c.G10266C (p.Q3422H), reside in the MYTH4 (myosin tail homology) and FERM (4.1 ezrin, radixin, moesin) domains of the protein. CONCLUSION: Globally, mutations in MYO15A are considered to be among the most prevalent genetic causes of ARNSHL, and they rank as the third leading cause of hearing loss in the Iranian population, below GJB2 and SLC26A4. Yet again, these results endorse the importance of MYO15 screening in hearing impaired populations, particularly in Iran.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miosinas / Sordera / Dominios FERM / Pérdida Auditiva Sensorineural Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2019 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miosinas / Sordera / Dominios FERM / Pérdida Auditiva Sensorineural Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2019 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Irlanda