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A Novel Tecta Mutation Causes Arnshl Publisher Pubmed



Asgharzade S1, 5 ; Tabatabaiefar MA2 ; Modarressi MH1 ; Ghahremani MH1 ; Reiisi S3 ; Tahmasebi P4 ; Abdollahnejad F4 ; Chaleshtori MH5
Authors
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Authors Affiliations
  1. 1. Department of Molecular Medicine School of Advanced Technologies in Medicine, Tehran University of Medical Science, Tehran, Iran
  2. 2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Genetics, Faculty of Basic Sciences, University of Shahrekord, Iran
  4. 4. Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
  5. 5. Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

Source: International Journal of Pediatric Otorhinolaryngology Published:2017


Abstract

Objective Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL). Methods 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Clinical inspections including audiometric and otologic examinations ruled out syndromic forms. Genetic linkage analysis was performed using six short tandem repeat markers closely linked to DFNB21. Haplotype and LOD score analysis were used to confirm possible linkage. All coding exons of TECTA were subject to DNA sequencing in the linked family. Results A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation (p.W245×). It co-segregated with HL in the family. This variant was not detected in 50 controls. All affected individuals in the family had moderate to severe HL. It full filled the criteria of a pathogenic variant. Conclusion Our data confirms the phenotype-directed genotyping for DFNB21 deafness against the typical profound HL phenotype seen in the most families segregating ARNSHL. We recommend mutation screening of TECTA in ARNSHL families segregating moderate to severe HL phenotype. © 2016 Elsevier Ireland Ltd
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