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Hearing loss, autosomal recessive 122(DFNB122)

MedGen UID:
1853544
•Concept ID:
C5935576
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 122
 
Gene (location): TMTC4 (13q32.3)
 
Monarch Initiative: MONDO:0958228
OMIM®: 620714

Definition

Autosomal recessive deafness-122 (DFNB122) is characterized by postnatal onset of nonsyndromic sensorineural hearing loss leading to deafness by the second or third decade. The severity is variable, first affecting high frequencies, with progression to deficits in all frequencies. Noise exposure may contribute to faster progression and more severe hearing loss (Li et al., 2023). [from OMIM]

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

Recent clinical studies

Etiology

Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA
Biomed Res Int 2015;2015:318727. Epub 2015 May 17 doi: 10.1155/2015/318727. PMID: 26075227Free PMC Article
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population.
Cheng HB, Chen ZB, Wei QJ, Lu YJ, Xing GQ, Cao X
Chin Med J (Engl) 2009 Jul 5;122(13):1549-53. PMID: 19719946
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y
J Laryngol Otol 2008 Feb;122(2):193-8. Epub 2007 Aug 1 doi: 10.1017/S0022215107009747. PMID: 17669226

Diagnosis

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Adadey SM, Mowla S, Leal SM, Wonkam A
Genes (Basel) 2020 Oct 23;11(11) doi: 10.3390/genes11111249. PMID: 33114113Free PMC Article
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J, Wang H, Lan L, Wang L, Yang J, Xie L, Yin Z, Xiong W, Zhao L, Wang D, Wang Q
Am J Med Genet A 2018 Jan;176(1):99-106. Epub 2017 Oct 19 doi: 10.1002/ajmg.a.38477. PMID: 29048736Free PMC Article
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y
J Laryngol Otol 2008 Feb;122(2):193-8. Epub 2007 Aug 1 doi: 10.1017/S0022215107009747. PMID: 17669226
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B
Nat Genet 2000 Sep;26(1):56-60. doi: 10.1038/79178. PMID: 10973248

Therapy

Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA
Biomed Res Int 2015;2015:318727. Epub 2015 May 17 doi: 10.1155/2015/318727. PMID: 26075227Free PMC Article

Prognosis

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Adadey SM, Mowla S, Leal SM, Wonkam A
Genes (Basel) 2020 Oct 23;11(11) doi: 10.3390/genes11111249. PMID: 33114113Free PMC Article
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O
Hum Mutat 2008 Mar;29(3):451. doi: 10.1002/humu.9524. PMID: 18273898

Clinical prediction guides

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Adadey SM, Mowla S, Leal SM, Wonkam A
Genes (Basel) 2020 Oct 23;11(11) doi: 10.3390/genes11111249. PMID: 33114113Free PMC Article
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM
BMC Med Genet 2018 Jul 20;19(1):122. doi: 10.1186/s12881-018-0618-5. PMID: 30029624Free PMC Article
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA
Biomed Res Int 2015;2015:318727. Epub 2015 May 17 doi: 10.1155/2015/318727. PMID: 26075227Free PMC Article
Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.
Belguith H, Masmoudi S, Medlej-Hashim M, Chouery E, Weil D, Ayadi H, Petit C, Mégarbané A
Eur J Hum Genet 2009 Jan;17(1):122-4. Epub 2008 Sep 10 doi: 10.1038/ejhg.2008.155. PMID: 18781188Free PMC Article
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O
Hum Mutat 2008 Mar;29(3):451. doi: 10.1002/humu.9524. PMID: 18273898

Supplemental Content

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    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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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