Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred-Reference-Cited by-同舟云学术

Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred

Published:2019-09 Issue: Volume:124 Page:99-105
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Sadeghian Ladan,Tabatabaiefar Mohammad Amin,Fattahi Najmeh,Pourreza Mohammad Reza,Tahmasebi Parisa,Alavi Zahra,Hashemzadeh Chaleshtori Morteza

Funder

Shahrekord University of Medical Sciences

Isfahan University of Medical Sciences

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference71 articles.

1. Newborn hearing screening--a silent revolution;Morton;N. Engl. J. Med.,2006

2. Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study;Fortnum;BMJ,2001

3. The longitudinal follow up of a universal neonatal hearing screen: the implications for confirming deafness in childhood;Watkin;Int. J. Audiol.,2012

4. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci;Najmabadi;Hum. Genet.,2007

5. Negative consequences of uncorrected hearing loss--a review;Arlinger;Int. J. Audiol.,2003

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2. Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss;Saudi Journal of Biological Sciences;2023-02

3. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29

4. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss;Molecular Genetics & Genomic Medicine;2020-11-18

5. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss;Molecular Biology Reports;2020-07