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Autosomal recessive nonsyndromic hearing loss 8(DFNB8; NSRD8)

MedGen UID:
322046
•Concept ID:
C1832827
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 10; Deafness, autosomal recessive 8; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8
 
Gene (location): TMPRSS3 (21q22.3)
 
Monarch Initiative: MONDO:0010987
OMIM®: 601072

Definition

An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Therapy

Genotyping data and novel haplotype diversity of STR markers in the SLC26A4 gene region in five ethnic groups of the Iranian population.
Mojtabavi Naeini M, Mesrian Tanha H, Hashemzadeh Chaleshtori M, Vallian S
Genet Test Mol Biomarkers 2014 Dec;18(12):820-5. doi: 10.1089/gtmb.2014.0178. PMID: 25390158Free PMC Article

Prognosis

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Doll J, Hofrichter MAH, Bahena P, Heihoff A, Segebarth D, Müller T, Dittrich M, Haaf T, Vona B
Mol Genet Genomic Med 2020 Aug;8(8):e1343. Epub 2020 Jun 10 doi: 10.1002/mgg3.1343. PMID: 32519820Free PMC Article
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H
PLoS One 2015;10(8):e0136306. Epub 2015 Aug 26 doi: 10.1371/journal.pone.0136306. PMID: 26308726Free PMC Article
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY
J Mol Med (Berl) 2014 Jun;92(6):651-63. Epub 2014 Feb 15 doi: 10.1007/s00109-014-1128-3. PMID: 24526180

Clinical prediction guides

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H
PLoS One 2015;10(8):e0136306. Epub 2015 Aug 26 doi: 10.1371/journal.pone.0136306. PMID: 26308726Free PMC Article
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Identification of a founder mutation for Pendred syndrome in families from northwest Iran.
Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1828-32. Epub 2014 Sep 1 doi: 10.1016/j.ijporl.2014.08.035. PMID: 25239229
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.
Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM
Am J Med Genet A 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516. PMID: 15637723Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

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