A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations

International Journal of Pediatric Otorhinolaryngology

Volumn 77, Issue 10, 2013, Pages 1670-1676

  Du, Wan ^a   Guo, Yufen ^a,b   Wang, Changlan ^a   Wang, Yanli ^a   Liu, Xiaowen ^a  

^a LANZHOU UNIVERSITY   (China)

^b Forestry Department of Gansu Province   (China)

Author keywords

Meta analysis; Non syndromic hearing loss (NSHL); P.H723R; SLC26A4, IVS7 2A>G

Indexed keywords

ARTICLE; ASIAN; CASE CONTROL STUDY; CHINESE; ETHNIC GROUP; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HEARING IMPAIRMENT; HUMAN; JAPANESE; KOREAN; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SLC6A4 GENE; SYSTEMATIC REVIEW;

META-ANALYSIS; NON-SYNDROMIC HEARING LOSS (NSHL); P.H723R; SLC26A4, IVS7-2A>G;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PREVALENCE; RISK ASSESSMENT;

EID: 84884292341     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2013.07.023     Document Type: Article

References (19)

1. Morton C.C., Nance W.E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 2006, 354:2151-2164.
2. Reardon W., Coffey R., Chowdhury T., et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J. Med. Genet. 1999, 36:595-598.
3. Usami S., Be A.S., Weston M.D., et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PD S mutations. Hum. Genet. 1999, 104:188-192.
4. Prasad S., Kolln K.A., Cucci R.A., et al. Pendred syndrome and DFNB4 -mutation screening of SLC26A 4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am. J. Med. Genet. A 2004, 124:1-9.
5. Scott D.A., Wang R., Kreman T.M., et al. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat. Genet. 1999, 21:440-443.
6. Campbell C., Cucci R.A., Prasad S., Green G.E., Edeal J.B., Galer C.E., et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum. Mutat. 2001, 17:403-411.
7. Anwar S., Riazuddin S., Ahmed Z.M., et al. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. J. Hum. Genet. 2009, 54:266-270.
8. 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. 2003, 11:916-922.
9. Park H.J., Lee S.J., Jin H.S., et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin. Genet. 2005, 67:160-165.
10. 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. 2007, 72:245-254.
11. G. Wells, B. Shea, D. Connell, et al. The Newcastle-Ottawa Scale (NOS) for assessing the quality if nonrandomized studies in meta-analyses. Available at:. accessed December 21, 2011. http://www.ohri.ca/programs/clinical_epidemiology/oxford.htm.
12. Dai P., Stewart A.K., Chebib F., et al. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol. Genomics 2009, 38:281-290.
13. Valvassori G.E., Clemis J.D. The large vestibular aqueduct syndrome. Laryngoscope 1978, 88:723-728.
14. 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. 2003, 40:242-248.
15. Bogazzi F., Russo D., Raggi F., et al. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. J. Endocrinol. Invest. 2004, 27:430-435.
16. Pourova R., Janousek P., Jurovcik M., et al. Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Ann. Hum. Genet. 2010, 74:299-307.
17. Usami S., Nishio S.Y., Nagano M., et al. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS ONE 2012, 7:e31276.
18. Choi B.Y., Stewart A.K., Nishimura K.K., et al. Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Genet. Test Mol. Biomarkers 2009, 13:679-687.
19. Shin J.W., Lee S.C., Lee H.K., et al. Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic. Clin. Exp. Otorhinolaryngol. 2012, 5:10-13.