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Autosomal recessive nonsyndromic hearing loss 83(DFNB83)

MedGen UID:
854856
•Concept ID:
C3888310
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 83
 
Monarch Initiative: MONDO:0013365
OMIM®: 613685

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. [from MONDO]

Clinical features

From HPO
Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907Free PMC Article
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

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
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907Free PMC Article
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Prognosis

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

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
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H
J Mol Med (Berl) 2005 Dec;83(12):1025-32. Epub 2005 Nov 8 doi: 10.1007/s00109-005-0719-4. PMID: 16283141

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