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Autosomal dominant nonsyndromic hearing loss 68(DFNA68)

MedGen UID:
898808
Concept ID:
C4225240
Disease or Syndrome
Synonym: Deafness, autosomal dominant 68
 
Gene (location): HOMER2 (15q25.2)
 
Monarch Initiative: MONDO:0014740
OMIM®: 616707

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing impairment
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.

Professional guidelines

PubMed

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Recent clinical studies

Etiology

Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article

Diagnosis

Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Prognosis

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Clinical prediction guides

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

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