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Autosomal recessive nonsyndromic hearing loss 76(DFNB76)

MedGen UID:
811137
•Concept ID:
C3147083
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 76; DFNB76 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): SYNE4 (19q13.12)
 
Monarch Initiative: MONDO:0014237
OMIM®: 615540

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. [from MONDO]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.
Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X
Genet Mol Res 2017 Feb 8;16(1) doi: 10.4238/gmr16019165. PMID: 28198501
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H
Int J Pediatr Otorhinolaryngol 2012 Feb;76(2):268-71. Epub 2011 Dec 14 doi: 10.1016/j.ijporl.2011.11.019. PMID: 22172221

Diagnosis

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, Rovó L, Kiss JG, Széll M
Int J Mol Sci 2023 Apr 17;24(8) doi: 10.3390/ijms24087401. PMID: 37108562Free PMC Article
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
Bai X, Nian S, Feng L, Ruan Q, Luo X, Wu M, Yan Z
Mol Genet Genomic Med 2019 Aug;7(8):e808. Epub 2019 Jun 28 doi: 10.1002/mgg3.808. PMID: 31250571Free PMC Article
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H
Int J Pediatr Otorhinolaryngol 2012 Feb;76(2):268-71. Epub 2011 Dec 14 doi: 10.1016/j.ijporl.2011.11.019. PMID: 22172221

Clinical prediction guides

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.
Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM
Eur J Hum Genet 2003 Jan;11(1):77-80. doi: 10.1038/sj.ejhg.5200905. PMID: 12529709Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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