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Autosomal recessive nonsyndromic hearing loss 55(DFNB55)

MedGen UID:
355338
•Concept ID:
C1864962
•
Disease or Syndrome
Synonyms: Autosomal recessive nonsyndromic deafness 55; Deafness, autosomal recessive 55
 
Monarch Initiative: MONDO:0012376
OMIM®: 609952

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. [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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC
Am J Med Genet A 2018 Apr;176(4):945-950. doi: 10.1002/ajmg.a.38648. PMID: 29575629
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A
Eur J Med Genet 2016 Jun;59(6-7):325-9. Epub 2016 May 8 doi: 10.1016/j.ejmg.2016.05.002. PMID: 27169813

Prognosis

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article

Clinical prediction guides

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.
Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S
Hum Genet 2007 Feb;120(6):789-93. Epub 2006 Oct 26 doi: 10.1007/s00439-006-0275-1. PMID: 17066295

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