Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL-Reference-Cited by-同舟云学术

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

Published:2013-02-27 Issue:10 Volume:21 Page:1112-1119
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Abdelfatah Nelly,McComiskey David A,Doucette Lance,Griffin Anne,Moore Susan J,Negrijn Carol,Hodgkinson Kathy A,King Justin J,Larijani Mani,Houston Jim,Stanton Susan G,Young Terry-Lynn

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg20135.pdf

Reference26 articles.

1. Raviv D, Dror AA, Avraham KB : Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci 2010; 1214: 168–179.

2. Young TL, Ives E, Lynch E et al: Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001; 10: 2509–2514.

3. Ahmed ZM, Li XC, Powell SD et al: Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet 2004; 5: 24.

4. Doucette L, Merner ND, Cooke S et al: Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet 2009; 17: 554–564.

5. Hilgert N, Smith RJ, Van Camp G : Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009; 681: 189–196.

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

2. Progression of KCNQ4 related genetic hearing loss: a narrative review;Journal of Bio-X Research;2021-09-30

3. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss;Experimental & Molecular Medicine;2021-07

4. Molecular simulation of the Kv7.4[ΔS269] mutant channel reveals that ion conduction in the cavity is perturbed due to hydrophobic gating;Biochemistry and Biophysics Reports;2021-03

5. Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss;Hearing Research;2020-03