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Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing Publisher Pubmed



Zarepour N1 ; Koohiyan M2 ; Taghipoursheshdeh A1 ; Nematizargaran F1 ; Saki N3 ; Mohammadiasl J4 ; Tabatabaiefar MA5, 6 ; Hashemzadehchaleshtori M1
Authors
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Authors Affiliations
  1. 1. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
  2. 2. Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran
  3. 3. Hearing Research Center, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
  4. 4. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
  5. 5. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  6. 6. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Audiology and Neurotology Published:2019


Abstract

Background and Objectives: Hereditary hearing loss (HL) is known by a very high genetic heterogeneity, which makes a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Method: A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in the family with 3 affected members. After excluding mutations in the GJB2 and 7 other most common autosomal recessive nonsyndromic HL genes via Sanger sequencing and genetic linkage analysis in the family, we applied the Otogenetics deafness NGS panel in the proband of this family. Results: NGS results showed a novel rare variant (c.7720C>T) in the MYO15A gene. This nonsense variant in the exon 40 of the MYO15A gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics guideline. Conclusions: New DNA sequencing technologies could lead to identification of the disease causing variants in highly heterogeneous disorders such as HL. © 2019 S. Karger AG, Basel
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