Response to: The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: A pathogenic mutation or coincidental polymorphism?

Human Mutation

Volumn 30, Issue 10, 2009, Pages 1471-

  Choi, Byung Yoon ^a   Alper, Byung Yoon Choi ^b   Griffith, Andrew J ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79953278430     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21098     Document Type: Letter

References (6)

1. Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, et.al. 2006. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 14:773-779.
2. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. 2009. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 30:599-608.
3. Pera A, Villamar M, Vinuela A, Gandia M, Meda C, Moreno F, Hernandez-Chico C. 2008. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. Eur J Hum Genet 16:888-896.
4. Yan J, Xu L, Crawford G, Wang Z, Burgess SM. 2006. The forkhead transcription factor FoxI1 remains bound to condensed mitotic chromosomes and stably remodels chromatin structure. Mol Cell Biol 26:155-168.
5. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. 2007. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80:1055-1063.
6. Yang T, Smith RJ. 2009. The c.-103T>C variant in the 50-UTR of SLC26A4 gene: A pathogenic mutation or coincidental polymorphism? Hum Mutat 30:1469-1470.