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Autosomal dominant nonsyndromic hearing loss 2A(DFNA2A)

MedGen UID:
436997
Concept ID:
C2677637
Disease or Syndrome
Synonyms: Autosomal dominant nonsyndromic deafness 2A; Deafness, autosomal dominant 2A; DFNA 2 Nonsyndromic Hearing Loss; DFNA2 Nonsyndromic Hearing Loss
 
Gene (location): KCNQ4 (1p34.2)
 
Monarch Initiative: MONDO:0010817
OMIM®: 600101

Definition

DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss is moderate in the low frequencies and severe to profound in the high frequencies. Although the hearing impairment is often detected during routine hearing assessment of a school-age child, it is likely that hearing is impaired from birth, especially at high frequencies. Most affected persons initially require hearing aids to assist with sound amplification between ages ten and 40 years. By age 70 years, all persons with DFNA2 nonsyndromic hearing loss have severe-to-profound hearing impairment. [from GeneReviews]

Additional description

From OMIM
Autosomal dominant deafness-2A (DFNA2A) is a form of postlingual nonsyndromic progressive sensorineural hearing loss that begins with impairment at high frequencies and progresses to include mid to low frequencies (Kamada et al., 2006; Mencia et al., 2008).  http://www.omim.org/entry/600101

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
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

Prognosis

Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
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

Jin Z, Zhu Q, Lu Y, Cheng J, Yuan H, Han D
Acta Otolaryngol 2022 May;142(5):448-453. Epub 2022 May 31 doi: 10.1080/00016489.2019.1597984. PMID: 35640035
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
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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