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Deafness, autosomal dominant 2A; DFNA2A

Disease ID:271
Name:Deafness, autosomal dominant 2A; DFNA2A
Associated with:1 target
Autosomal dominant nonsyndromic deafness | Autosomal dominant non-syndromic sensorineural deafness type DFNA
Database Links
Disease Ontology: DOID:0050564
OMIM: 600101
Orphanet: ORPHA90635


Role:  A form of sensorineural hearing loss. Loss of function mutations in KCNQ4 are a cause of non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2). Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
References:  1-2,4-6
Mutations:  Kv7.4 is associated with 8 mutation. Click here for details


No ligand related data available for Deafness, autosomal dominant 2A; DFNA2A


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1. Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F et al.. (1999) Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet, 8 (7): 1321-8. [PMID:10369879]

2. Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ. (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell, 96 (3): 437-46. [PMID:10025409]

3. Mencía A, González-Nieto D, Modamio-Høybjør S, Etxeberría A, Aránguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L et al.. (2008) A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. Hum Genet, 123 (1): 41-53. [PMID:18030493]

4. Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. (1999) Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat, 14 (6): 493-501. [PMID:10571947]

5. Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, Usami S. (2002) A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Hum Mutat, 20 (1): 15-9. [PMID:12112653]

6. Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G. (2000) Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. Am J Med Genet, 93 (3): 184-7. [PMID:10925378]