Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children

International Journal of Pediatric Otorhinolaryngology

Volumn 75, Issue 2, 2011, Pages 211-214

  Hayashi, Chieri ^a   Funayama, Manabu ^a   Li, Yuanzhe ^a   Kamiya, Kazusaku ^a   Kawano, Atsushi ^b   Suzuki, Mamoru ^b   Hattori, Nobutaka ^a   Ikeda, Katsuhisa ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Tokyo Medical University School of Medicine   (Japan)

Author keywords

Cochlear implantation; Congenital deafness; Connexin 26; GJB2; Japanese children; P.P225L

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; COHORT ANALYSIS; CONGENITAL DEAFNESS; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; IMPLANTATION; JAPANESE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; AUDIOMETRY; CHILD, PRESCHOOL; COHORT STUDIES; CONNEXINS; DEAFNESS; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; JAPAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; SEVERITY OF ILLNESS INDEX; SEX DISTRIBUTION;

EID: 78650996567     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2010.11.001     Document Type: Article

References (34)

1. Davis A.C. The prevalence of deafness and reported hearing disability among adults in Great Britain. Int. J. Epidemiol. 1989, 18:911-917.
2. Wilson D.H., Walsh P.G., Sanchez L. The epidemiology of deafness in an Australian adult population. Int. J. Epidemiol. 1999, 28:247-252.
3. Morton N.E. Genetic epidemiology of deafness. Ann. N. Y. Acad. Sci. 1991, 630:1631.
4. Marazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., Nance W.E. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 1993, 46:486-491.
5. Kalatzis V., Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum. Mol. Genet. 1998, 7:1589-1597.
6. Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet. Med. 2002, 4:258-274.
7. Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E.N., et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling. Lancet 1999, 353:1298-1303.
8. Murgia A., Orzan E., Polli R., Martella M., Vinanzi C., Leonardi E., et al. Cx26 deafness: mutation analysis and clinical variability. J. Med. Genet. 1999, 36:829-832.
9. Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F., Waligora J., et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am. J. Hum. Genet. 2005, 77:945-957.
10. Fuse Y., Doi K., Hasegawa T., Sugii A., Hibino H., Kubo T. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafnesss. Neuro Report 1999, 10:1853-1857.
11. Abe S., Usami S., Shinkawa H., Kelley P.M., Kimberling W.J. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J. Med. Genet. 2000, 37:41-43.
12. Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T., Watanabe K., et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am. J. Med. Genet. 2000, 90:141-145.
13. Park H.J., Hahn S.H., Chun Y.M., Park K., Kim H.N. Connexin 26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000, 110:1535-1538.
14. Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen K., et al. High carrier frequency of the 35delG deafness mutation in European populations, Genetic Analysis Consortium of GJB2 35delG. Eur. J. Hum. Genet. 2000, 8:19-23.
15. Brobby G.W., Muller-Myhsok B., Horstmann R.D. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 1998, 338:548-550.
16. Maheshwari M., Vijaya R., Ghosh M., Shastri S., Kabra M., Menon P.S. Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am. J. Med. Genet. A 2003, 120A:180-184.
17. RamShankar M., Girirajan S., Dagan O., Ravi Shankar H.M., Jalvi R., Rangasayee R., et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet. 2003, 40:e68.
18. Minárik G., Ferák V., Feráková E., Ficek A., Poláková H., Kádasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen. Physiol. Biophys. 2003, 22:549-556.
19. Seeman P., Malíková M., Rasková D., Bendová O., Groh D., Kubálková M., et al. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin. Genet. 2004, 66:152-157.
20. Alvarez A., del Castillo I., Villamar M., Aguirre L.A., González-Neira A., López-Nevot A., et al. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. Am. J. Med. Genet. A 2005, 137A:255-258.
21. Cryns K., Orzan E., Murgia A., Huygen P.L., Moreno F., del Castillo I., et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J. Med. Genet. 2004, 41:147-154.
22. Oguchi T., Ohtsuka A., Hashimoto S., Oshima A., Abe S., Kobayashi Y., et al. Clinical features of patients with GJB2 (connexin 26) mutations: Severity of hearing loss is correlated with genotypes and protein expression patterns. J. Hum. Genet. 2005, 50:76-83.
23. Fukushima K., Sugata K., Kasai N., Fukuda S., Nagayasu R., Toida N., et al. Better speech performance in cochlear implant patients with GJB2-related deafness. Int. J. Pediatr. Otorhinolaryngol. 2002, 62:151-157.
24. Del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic deafnesss. J. Med. Genet. 2005, 42:588-594.
25. Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S., Van Laer L., et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum. Genet. 2003, 112:329-333.
26. Loffler J., Nekahm D., Hirst-Stadlmann A., Gunther B., Menzel H.J., Utermann G., et al. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur. J. Hum. Genet. 2001, 9:226-230.
27. Pampanos A., Economides J., Iliadou V., Neou P., Leotsakos P., Voyiatzis N., et al. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int. J. Pediatr. Otorhinolaryngol. 2002, 65:101-108.
28. Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A., Brobby G.W., et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural deafness in Ghana. Hum. Mutat. 2001, 18:84-85.
29. WangYC, Kung C.Y., Su M.C., Su C.C., Hsu H.M., Tsai C.C., et al. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur. J. Hum. Genet. 2002, 10:495-498.
30. Huculak C., Bruyere H., Nelson T.N., Kozak F.K., Langlois S. V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity. Am. J. Med. Genet. A 2006, 140:2394-2400.
31. Dahl H.H., Saunders K., Kelly T.M., Osborn A.H., Wilcox S., Cone-Wesson B., et al. Prevalence and nature of connexin 26 mutations in children with non-syndromic deafnesss. Med. J. Aust. 2001, 175:191-194.
32. Elias L.A., Wang D.D., Kriegstein A.R. Gap junction adhesion is necessary for radial migration in the neocortex. Nature 2007, 448:901-907.
33. Martin P.E., Blundell G., Ahmad S., Errington R.J., Evans W.H. Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channels. J. Cell Sci. 2001, 114:3845-3855.
34. 2+]i responses. Mol. Biol. Cell 2008, 19:3501-3513.