Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss-Reference-Cited by-同舟云学术

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Published:2021-12-03 Issue:1 Volume:30 Page:34-41
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Vaché Christel^ORCID,Baux David,Bianchi Julie,Baudoin Corinne,Faugère Valérie,Francannet Christine,Koenig Michel,Kalatzis Vasiliki^ORCID,Roux Anne-Françoise

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-021-01010-9.pdf

Reference27 articles.

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2. Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet. 2002;30:277–84.

3. Sirmaci A, Duman D, Oztürkmen-Akay H, Erbek S, Incesulu A, Oztürk-Hişmi B, et al. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol. 2009;73:699–705.

4. Ganapathy A, Pandey N, Srisailapathy CRS, Jalvi R, Malhotra V, Venkatappa M, et al. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS ONE. 2014;9:e84773.

5. Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, et al. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS ONE. 2014;9:e100146.

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