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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/102/0024

    • Keywords

       

      splicing; splicing defect; OTOF; auditory neuropathy spectrum disorder.

    • Abstract

       

      Pathogenic variants in OTOF cause auditory neuropathy spectrum disorder (ANSD), namely prelingual nonsyndromic ANSD and temperature-sensitive ANSD (TS-ANSD). All study subjects provided blood sample for genetic analysis and sequencing. Wholeexome sequencing was carried out to identify the causative pathogenic variant. RNAwas extracted to analyse the messenger RNA (mRNA) resulting from the transcription of OTOF. Here, we identified a family with OTOF-related ANSD. This disorder was caused by an intronic mutation in OTOF (NM_194248: c.2406?4A[G). In further analysis, we proved that this variant causes a splicing defect resulting in theomission of exon 20 from the mRNA transcribed from OTOF. In this study, we demonstrated that the variant is four nucleotides away from the conventional splicing site, and our findings suggest that splicing mechanisms need to be better understood, as well as how neighbouring regions may impact splicing.

    • Author Affiliations

       

      SANAZ MOHAMMADI1 HOSSEIN JAFARI KHAMIRANI2 SINA ZOGHI3 SEYED ALIREZA DASTGHEIB2 SEYED MOHAMMAD BAGHER TABEI2 4 MAHDIEH TALEBZADEH5 MOHAMMAD HOSSEIN ADIBI6 MEHDI DIANATPOUR2 7

      1. Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz 71936-13311, Iran
      2. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz 71936-13311, Iran
      3. Student Research Committee, Shiraz University of Medical Sciences, Shiraz 71936-13311, Iran
      4. Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz 71936-13311, Iran
      5. Department of Molecular Medicine, Shiraz University of Medical Sciences, Shiraz 71936-13311, Iran
      6. School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30322, USA
      7. Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz 71936-13311, Iran

    • Dates

       
      Published
      27 February 2023
      Manuscript received
      8 June 2022
      Manuscript revised
      27 October 2022
      Accepted
      12 December 2022
      Final version published online
      27 February 2023

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