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Targeted Sequencing of Cdh23 and Gjb2 Genes in an Iranian Pedigree With Usher Syndrome and Non-Syndromic Hearing Loss Publisher



Torkamandi S1 ; Bayat S2 ; Mirfakhraie R3 ; Rezaei S4, 5 ; Askari M6 ; Piltan S3 ; Gholami M7, 8
Authors
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Authors Affiliations
  1. 1. Department of Medical Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran
  2. 2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Neurology ward, Vali-Asr Hospital, Tuyserkan, Hamedan University of Medical Sciences, Hamadan, Iran
  5. 5. Department of Neurology, Imam Khomeini Hospital, Urmia University of Medical Sciences, Urmia, Iran
  6. 6. Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
  7. 7. Molecular and Medicine Research Center, Arak University of Medical Sciences, Arak, Iran
  8. 8. Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran

Source: Gene Reports Published:2021


Abstract

Hearing loss is genetically classified as non-syndromic and syndromic deafness. Mutations in the GJB2 gene are the most main reason for autosomal recessive non-syndromic hearing loss. Moreover, Usher syndrome is the most common type of syndromic hearing and vision loss. Three types of this syndrome can be distinguished based on the hearing and vision deficit severity. Usher type 1 is the most severe type, defined by congenital bilateral profound hearing loss, vestibular areflexia and retinitis pigmentosa. Here, we present detailed analyses of clinical and genetical characteristics of two distinct families with both Usher syndrome and non-syndromic hearing loss in a pedigree. The Sanger sequencing analysis of the GJB2 gene revealed a homozygous c.35delG (p.Gly12Valfs *2) nonsense mutation in two cases with non-syndromic hearing loss. In addition, targeted exome sequencing of hearing loss-related genes identified a homozygous c.2206C > T (p.Arg736Ter) variant in CDH23 gene concerning two affected brothers with Usher syndrome type 1. The current investigation described the disease-causing variant in the CDH23 with new transferring form and implied the critical role of molecular testing in precise clinical diagnosis, genetic counselling of congenital hearing loss. © 2021 Elsevier Inc.
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