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Autosomal dominant nonsyndromic hearing loss 24(DFNA24)

MedGen UID:
377905
•Concept ID:
C1853451
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 24
 
Monarch Initiative: MONDO:0011657
OMIM®: 606282

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295

Diagnosis

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Prognosis

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Clinical prediction guides

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
Fukushima K, Kasai N, Ueki Y, Nishizaki K, Sugata K, Hirakawa S, Masuda A, Gunduz M, Ninomiya Y, Masuda Y, Sato M, McGuirt WT, Coucke P, Van Camp G, Smith RJ
Am J Hum Genet 1999 Jul;65(1):141-50. doi: 10.1086/302461. PMID: 10364526Free PMC Article
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

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