Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct

Otolaryngology - Head and Neck Surgery

Volumn 141, Issue 4, 2009, Pages 502-508

  Reyes, Samuel ^a   Wang, Guojian ^b   Ouyang, Xiaomei ^a   Han, Bing ^b   Du, Li Lin ^a   Yuan, Hui Jun ^b   Yan, Denise ^a   Dai, Pu ^b   Liu, Xue Zhong ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; DNA; PROTEIN SLC26A4; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE COURSE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOTE; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRESCHOOL CHILD; SCHOOL CHILD; VESTIBULAR DISORDER; VESTIBULE AQUEDUCT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHIN; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; SEQUENCE ANALYSIS, DNA; VESTIBULAR AQUEDUCT; YOUNG ADULT;

EID: 70349323159     PISSN: 01945998     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.otohns.2009.07.004     Document Type: Article

References (15)

1. European Concerted Action Project on Genetics of Hearing Impairment. Study group on terminology, definitions, and hearing assessment. Newsletter No. 2. (Nov 1996). http://audiology.unife.it/www.gendeaf.org/hear/infoletters/Info_02.doc Accessed August 21, 2009
2. Lasak J.M., and Welling D.B. The enlarged vestibular aqueduct syndrome. Curr Opin Otolaryngol Head Neck Surg 8 (2000) 380-383
3. Tsukamoto K., Suzuki H., Harada D., et al. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 11 (2003) 916-922
4. Coyle B., Reardon W., Herbrick J.A., et al. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goiter). Hum Mol Genet 7 (1998) 1105-1112
5. Van Hauwe P., Everett L.A., Coucke P., et al. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 7 (1998) 1099-1104
6. Park H.J., Shaukat S., Liu X.Z., et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40 (2003) 242-248
7. Wang Q.J., Zhao Y.L., Rao S.Q., et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 72 (2007) 245-254
8. Dai P., Li Q., Huang D., et al. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med 10 (2008) 586-592
9. Hu H., Wu L., Feng Y., et al. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet 52 (2007) 492-497
10. Campbell C., Cucci R.A., Prasad S., et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17 (2001) 403-411
11. Pera A., Villamar M., Viñuela A., et al. 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 (2008) 888-896
12. Coucke P.J., Van Hauwe P., Everett L.A., et al. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet 36 (1999) 475-477
13. Ko S.B., Zeng W., Dorwart M.R., et al. Gating of CFTR by the STAS domain of SLC26 transporters. Nat Cell Biol 6 (2004) 343-350
14. Chernova M.N., Jiang L., Shmukler B.E., et al. Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes. J Physiol 549 (2003) 3-19
15. Zalzal G.H., Tomaski S.M., Vezina L.G., et al. Enlarged vestibular aqueduct and sensorineural hearing loss in childhood. Arch Otolaryngol Head Neck Surg 121 (1995) 23-28