A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect-Reference-Cited by-同舟云学术

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

Published:2016-11-12 Issue:1 Volume:136 Page:107-118
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Pater Justin A.,Benteau Tammy,Griffin Anne,Penney Cindy,Stanton Susan G.,Predham Sarah,Kielley Bernadine,Squires Jessica,Zhou Jiayi,Li Quan,Abdelfatah Nelly,O’Rielly Darren D.,Young Terry-Lynn

Funder

Canadian Institutes of Health Research (CA)

Canadian Foundation for Innovation

Genome Canada (Atlantic Medical Genetics and Genomics Initiative)

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1746-7.pdf

Reference44 articles.

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2. Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL (2013b) A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. Hum Mutat 34:66–69. doi: 10.1002/humu.22205

3. Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER (2004) 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 5:24. doi: 10.1186/1471-2350-5-24

4. Bashir R, Fatima A, Naz S (2010) Mutations in CLDN14 are associated with different hearing thresholds. J Hum Genet 55:767–770. doi: 10.1038/jhg.2010.104

5. Bashir ZE, Latief N, Belyantseva IA, Iqbal F, Riazuddin SA, Khan SN, Friedman TB, Riazuddin S, Riazuddin S (2013) Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet 58:102–108. doi: 10.1038/jhg.2012.143

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