The DFNA2 locus for hearing impairment: Two genes regulating K+ ion recycling in the inner ear

British Journal of Audiology

Volumn 33, Issue 5, 1999, Pages 285-289

  Van Hauwe, P ^a   Coucke, P ^a   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Autosomal dominant non syndromal hearing impaiment (ADNSHI); Chromosome; Gene; Mutation

Indexed keywords

CONNEXIN 31; GAP JUNCTION PROTEIN; POTASSIUM CHANNEL; POTASSIUM ION; UNCLASSIFIED DRUG;

AUDIOMETRY; AUTOSOMAL DOMINANT INHERITANCE; CELL CONTACT; CELL JUNCTION; CELL TRANSPORT; CHROMOSOME 1P; CONFERENCE PAPER; ENDOLYMPH; GENE LOCUS; GENETIC ANALYSIS; HAIR CELL; HEARING IMPAIRMENT; HOMEOSTASIS; HUMAN; INNER EAR; MULTIGENE FAMILY; PHENOTYPE; PRIORITY JOURNAL; RECYCLING;

EID: 0033372166     PISSN: 03005364     EISSN: None     Source Type: Journal    
DOI: 10.3109/03005369909090111     Document Type: Conference Paper

References (12)

1. Coucke P, Van Camp G, Djoyodiharjo B et al. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med 1994; 331: 425-31.
2. Coucke PJ, Van Hauwe P, Kelley PM et al. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in 4 DFNA2 families. Hum Mol Genet, 1999; 8: 1321-8.
3. Denoyelle F, Weil D, Maw MA et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173-7.
4. Gorlin RJ. Genetic hearing loss with no associated abnormalities. In: R Gorlin (Ed.). Hereditary Hearing Loss and Its Syndromes. New York: Oxford University Press, 1995; 337-9.
5. Kubisch C, Schroeder BC, Friedrich T et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999; 96: 437-46.
6. Kunst H, Marres H, Huygen PL et al. Nonsyndromic autosomal dominant sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2. Laryngoscope 1998; 108: 74-9.
7. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the US school-age population. Am J Med Genet 1993; 46: 486-91.
8. Marres H, Van Ewijk M, Huygen P et al. Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. Arch Otolaryngol Head Neck Surg 1997; 123: 573-7.
9. Neyroud N, Tesson F, Denjoy I et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet 1997; 15: 186-9.
10. Van Camp G, Coucke PJ, Kunst H et al. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics 1997; 41: 70-4.
11. Van Hauwe P, Coucke P, Declau F et al. Deafness linked to DFNA2: one locus but how many genes? Nature Genet 1999; 21: 263.
12. Xia JH, Liu CY, Tang BS et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genet 1998; 20: 370-3.