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Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
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. Coucke PJ, et al. Among authors: kunst h. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Hum Mol Genet. 1999. PMID: 10369879
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ. Van Camp G, et al. Among authors: kunst h. Genomics. 1997 Apr 1;41(1):70-4. doi: 10.1006/geno.1997.4624. Genomics. 1997. PMID: 9126484 Free article.
DFNA2/KCNQ4 and its manifestations.
De Leenheer EM, Ensink RJ, Kunst HP, Marres HA, Talebizadeh Z, Declau F, Smith SD, Usami S, Van de Heyning PH, Van Camp G, Huygen PL, Cremers CW. De Leenheer EM, et al. Among authors: kunst hp. Adv Otorhinolaryngol. 2002;61:41-6. doi: 10.1159/000066802. Adv Otorhinolaryngol. 2002. PMID: 12408061 No abstract available.
Deafness linked to DFNA2: one locus but how many genes?
Van Hauwe P, Coucke PJ, Declau F, Kunst H, Ensink RJ, Marres HA, Cremers CW, Djelantik B, Smith SD, Kelley P, Van de Heyning PH, Van Camp G. Van Hauwe P, et al. Among authors: kunst h. Nat Genet. 1999 Mar;21(3):263. doi: 10.1038/6778. Nat Genet. 1999. PMID: 10080176 No abstract available.
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ. McGuirt WT, et al. Among authors: kunst hp. Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516. Nat Genet. 1999. PMID: 10581026
291 results