Deafness, autosomal dominant 2A; DFNA2A

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

Targets

Kv7.4
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

Ligands

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

References

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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, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. (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]