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DFNA 2 Nonsyndromic Hearing Loss(DFNA2A)

MedGen UID:
436997
Concept ID:
C2677637
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 2A; DFNA2 Nonsyndromic Hearing Loss; DFNA2A
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): KCNQ4 (1p34.2)
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]

Clinical features

Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Finding
Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. Causes of tinnitus include. -Hearing loss in older people. -Exposure to loud noises. -Ear and sinus infections. -Heart or blood vessel problems. -Meniere's disease. -Brain tumors. -Hormonal changes in women. -Thyroid problems. -Certain medicines. Treatment depends on the cause. Treatments may include hearing aids, sound-masking devices, medicines, and ways to learn how to cope with the noise. NIH: National Institute on Deafness and Other Communication Disorders .

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y
J Hum Genet 2015 Mar;60(3):119-26. Epub 2015 Jan 15 doi: 10.1038/jhg.2014.114. [Epub ahead of print] PMID: 25589040Free PMC Article
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. [Epub ahead of print] PMID: 25388789Free PMC Article
Su Y, Tang WX, Gao X, Yu F, Dai ZY, Zhao JD, Lu Y, Ji F, Huang SS, Yuan YY, Han MY, Song YS, Zhu YH, Kang DY, Han DY, Dai P
PLoS One 2014;9(2):e89240. Epub 2014 Feb 21 doi: 10.1371/journal.pone.0089240. PMID: 24586623Free PMC Article

Prognosis

Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. [Epub ahead of print] PMID: 25388789Free PMC Article

Clinical prediction guides

Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. [Epub ahead of print] PMID: 25388789Free PMC Article

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