Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.
Background Hearing loss (HL) is the most prevalent and genetically heterogeneous sensory disabilities in humans throughout the world. Methods In this study, we used whole-exome sequencing (WES) to determine the variant causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in 3 s...
| Publicado en: | Laboratory Medicine Vol. 53; no. 2; pp. 111 - 123 |
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| Autores principales: | , , , , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Oxford University Press / USA
Mar2022
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=155695981&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 155695981 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00075027 4CY jtl: Laboratory Medicine issn: 00075027 maglogo: N pubinfo: dt: Mar2022 vid: 53 iid: 2 pid: 10398 pub: Oxford University Press / USA artinfo: ui: 155695981 155695981 155695981 10.1093/labmed/lmab047 155695981 ppf: 111 ppct: 12 formats: tig: atl: Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees. aug: au: Nasrniya, Samane Miar, Paniz Narrei, Sina Sepehrnejad, Mahsa Nilforoush, Mohammad Hussein Abtahi, Hamidreza Tabatabaiefar, Mohammad Amin affil: Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences , Isfahan , Iran sug: subj: Hearing Disorders Chromosome Aberrations Mutation Consanguinity Human Iran Child Adolescence Evoked Potentials, Auditory, Brainstem Scales DNA Proteins Child: 6-12 years Adolescent: 13-18 years ab: Background Hearing loss (HL) is the most prevalent and genetically heterogeneous sensory disabilities in humans throughout the world. Methods In this study, we used whole-exome sequencing (WES) to determine the variant causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in 3 separate Iranian consanguineous families (with 3 different ethnicities: Azeri, Persian, and Lur), followed by cosegregation analysis, computational analysis, and structural modeling using the I-TASSER (Iterative Threading ASSEmbly Refinement) server. Also, we used speech-perception tests to measure cochlear implant (CI) performance in patients. Results One small in-frame deletion variant (MYO15A c.8309_8311del (p.Glu2770del)), resulting in deletion of a single amino-acid residue was identified. We found it to be cosegregating with the disease in the studied families. We provide some evidence suggesting the pathogenesis of this variant in HL based on the American College of Medical Genetics (ACMG) and Genomics guidelines. Evaluation of auditory and speech performance indicated favorable outcome after cochlear implantation in our patients. Conclusions The findings of this study demonstrate the utility of WES in genetic diagnostics of HL. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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