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Autosomal dominant nonsyndromic hearing loss 48(DFNA48)

MedGen UID:
375052
•Concept ID:
C1842939
•
Disease or Syndrome
Synonyms: DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48 Nonsyndromic Hearing Loss and Deafness
 
Monarch Initiative: MONDO:0011920
OMIM®: 607841

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. [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

Diagnosis

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
Genet Med 2019 Apr;21(4):948-954. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0285-0. PMID: 30245514Free PMC Article
Genetics of Hearing Loss--Nonsyndromic.
Chang KW
Otolaryngol Clin North Am 2015 Dec;48(6):1063-72. Epub 2015 Aug 11 doi: 10.1016/j.otc.2015.06.005. PMID: 26275501

Prognosis

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
Genet Med 2019 Apr;21(4):948-954. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0285-0. PMID: 30245514Free PMC Article

Clinical prediction guides

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
Genet Med 2019 Apr;21(4):948-954. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0285-0. PMID: 30245514Free PMC Article

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