A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation-Reference-Cited by-同舟云学术

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation

Published:2006-04-05 Issue:5 Volume:51 Page:455-460
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kamada Fumiaki,Kure Shigeo,Kudo Takayuki,Suzuki Yoichi,Oshima Takeshi,Ichinohe Akiko,Kojima Kanako,Niihori Tetsuya,Kanno Junko,Narumi Yoko,Narisawa Ayumi,Kato Kumi,Aoki Yoko,Ikeda Katsuhisa,Kobayashi Toshimitsu,Matsubara Yoichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200668.pdf

Reference21 articles.

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2. Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ et al (1994) Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med 331:425–431

3. 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 8:1321–1328

4. Gouas L, Bellocq C, Berthet M, Potet F, Demolombe S, Forhan A, Lescasse R, Simon F, Balkau B, Denjoy I, Hainque B, Baro I, Guicheney P (2004) New KCNQ1 mutations leading to haploinsufficiency in a general population: defective trafficking of a KvLQT1 mutant. Cardiovasc Res 63:60–68

5. Kenneson A, Van Naarden Braun K, Boyle C (2002) GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4:258–274

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