Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population

Journal of Human Genetics

Volumn 53, Issue 11-12, 2008, Pages 1022-1028

  Han, Sung Hee ^a   Park, Hong Joon ^b   Kang, Eun Joo ^a   Ryu, Jae Song ^a   Lee, Anna ^a   Yang, Young Ho ^a   Lee, Kyoung Ryul ^a  

^a Seoul Medical Science Institute   (South Korea)

^b Soree Ear Clinic   (South Korea)

Author keywords

Carrier frequency; GJB2; Inherited deafness; Korean

Indexed keywords

CONNEXIN 26;

ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; POLYMERASE CHAIN REACTION; PREVALENCE;

CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 57349131522     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0342-7     Document Type: Article

References (46)

1. S Abe S Usami H Shinkawa PM Kelley WJ Kimberling 2000 Prevalent connexin 26 gene (GJB2) mutations in Japanese J Med Genet 37 41 43
2. Antonarakis SE, Krawczak M, Cooper DN (2001) The nature and mechanisms of human gene mutation. In: Scriver CR, Braudet AL, Sly WS, Vall DV (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 343-378
3. L Bason T Dudley K Lewis U Shah W Potsic A Ferraris P Fortina E Rappaport ID Krantz 2002 Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss Clin Genet 61 459 464
4. GW Brobby B Müller-Myhsok RD Horstmann 1998 Connexin 26 R143 W mutation associated with recessive nonsyndromic sensorineural deafness in Africa N Engl J Med 338 548 550
5. R Bruzzone V Veronesi D Gomès M Bicego N Duval S Marlin C Petit P D'Andrea TW White 2003 Loss-of-function and residual channel activity of connexin 26 mutations associated with non-syndromic deafness FEBS Lett 533 79 88
6. HH Dahl SE Tobin Z Poulakis FW Rickards X Xu L Gillam J Williams K Saunders B Cone-Wesson M Wake 2006 The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children J Med Genet 43 850 855
7. P Dai F Yu B Han Y Yuan Q Li G Wang X Liu J He D Huang D Kang X Zhang H Yuan E Schmitt D Han LJ Wong 2007 The prevalence of the 235delC GJB2 mutation in a Chinese deaf population Genet Med 9 283 289
8. P D'Andrea V Veronesi M Bicego S Melchionda L Zelante E Di Iorio R Bruzzone P Gasparini 2002 Hearing loss: frequency and functional studies of the most common connexin 26 alleles Biochem Biophys Res Commun 296 685 691
9. JT den Dunnen SE Antonarakis 2001 Nomenclature for the description of human sequence variations Hum Genet 109 121 124
10. X Estivill P Fortina S Surrey R Rabionet S Melchionda L D'Agruma E Mansfield E Rappaport N Govea M Milà L Zelante P Gasparini 1998 Connexin-26 mutations in sporadic and inherited sensorineural deafness Lancet 351 394 398
11. Y Fuse K Doi T Hasegawa A Sugii H Hibino T Kubo 1999 Three novel connexin 26 gene mutations in autosomal recessive non-syndromic deafness Neuroreport 10 1853 1857
12. GE Green DA Scott JM McDonald GG Woodworth VC Sheffield RJ Smith 1999 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness JAMA 281 2211 2216
13. AJ Griffith Y Yang SP Pryor HJ Park EW Jabs JB Nadol Jr LJ Russell DI Wasserman G Richard JC Adams SN Merchant 2006 Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome Laryngoscope 116 1404 1408
14. C Huculak H Bruyere TN Nelson FK Kozak S Langlois 2006 V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity Am J Med Genet A 140 2394 2400
15. HL Hwa TM Ko CJ Hsu CH Huang YL Chiang JL Oong CC Chen CK Hsu 2003 Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness Genet Med 5 161 165
16. PM Kelley DJ Harris BC Comer JW Askew T Fowler SD Smith WJ Kimberling 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss Am J Hum Genet 62 792 799
17. LM Leemis SK Trivedi 1996 A Comparison of approximate interval estimators for the Bernoulli parameter Am Stat 50 288 295
18. Y Liu X Ke Y Qi W Li P Zhu 2002 Connexin 26 gene (GJB2): prevalence of mutations in the Chinese population J Hum Genet 47 688 690
19. G Lucotte F Diéterlen 2005 The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece Genet Test 9 20 25
20. S Marlin EN Garabédian G Roger L Moatti N Matha P Lewin C Petit F Denoyelle 2001 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling Arch Otolaryngol Head Neck Surg 127 927 933
21. G Meşe E Londin R Mui PR Brink TW White 2004 Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss Hum Genet 115 191 199
22. RJ Morell HJ Kim LJ Hood L Goforth K Friderici R Fisher G Van Camp CI Berlin C Oddoux H Ostrer B Keats TB Friedman 1998 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness N Engl J Med 339 1500 1505
23. S Ogino ML Gulley JT den Dunnen RB Wilson The Association for Molecular Patholpogy Training, Education Committtee 2007 Standard mutation nomenclature in molecular diagnostics: practical and educational challenges J Mol Diagn 9 1 6
24. T Oguchi A Ohtsuka S Hashimoto A Oshima S Abe Y Kobayashi K Nagai T Matsunaga S Iwasaki T Nakagawa S Usami 2005 Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns J Hum Genet 50 76 83
25. A Ohtsuka I Yuge S Kimura A Namba S Abe L Van Laer G Van Camp S Usami 2003 GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation Hum Genet 112 329 333
26. M Palmada K Schmalisch C Böhmer N Schug M Pfister F Lang N Blin 2006 Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment Neurobiol Dis 22 112 118
27. HJ Park SH Hahn YM Chun K Park HN Kim 2000 Connexin 26 mutations associated with nonsyndromic hearing loss Laryngoscope 110 1535 1538
28. C Petit J Levilliers JP Hardelin 2001 Molecular genetics of hearing loss Annu Rev Genet 35 589 646
29. A Pollak A Skórka M Mueller-Malesińska G Kostrzewa B Kisiel J Waligóra P Krajewski M Ołdak L Korniszewski H Skarzyński R Ploski 2007 M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance Am J Med Genet A 143A 2534 2543
30. O Posukh N Pallares-Ruiz V Tadinova L Osipova M Claustres AF Roux 2005 First molecular screening of deafness in the Altai Republic population BMC Med Genet 6 12 18
31. R Rabionet L Zelante N López-Bigas L D'Agruma S Melchionda G Restagno ML Arbonés P Gasparini X Estivill 2000 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene Hum Genet 106 40 44
32. AF Roux N Pallares-Ruiz A Vielle V Faugère C Templin D Leprevost F Artières G Lina N Molinari P Blanchet M Mondain M Claustres 2004 Molecular epidemiology of DFNB1 deafness in France BMC Med Genet 5 5
33. I Schrijver KW Chang 2006 Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype? Int J Pediatr Otorhinolaryngol 70 2109 2113
34. GZ Shi LX Gong XH Xu WY Nie Q Lin YS Qi 2004 GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China Hear Res 197 19 23
35. RL Snoeckx PL Huygen D Feldmann S Marlin F Denoyelle J Waligora M Mueller-Malesinska A Pollak R Ploski A Murgia E Orzan P Castorina U Ambrosetti E Nowakowska-Szyrwinska J Bal W Wiszniewski AR Janecke D Nekahm-Heis P Seeman O Bendova MA Kenna A Frangulov HL Rehm M Tekin A Incesulu HH Dahl D du Sart L Jenkins D Lucas M Bitner-Glindzicz KB Avraham Z Brownstein I del Castillo F Moreno N Blin M Pfister I Sziklai T Toth PM Kelley ES Cohn L Van Maldergem P Hilbert AF Roux M Mondain LH Hoefsloot CW Cremers T Löppönen H Löppönen A Parving K Gronskov I Schrijver J Roberson F Gualandi A Martini G Lina-Granade N Pallares-Ruiz C Correia G Fialho K Cryns N Hilgert P Van de Heyning CJ Nishimura RJ Smith G Van Camp 2005 GJB2 mutations and degree of hearing loss: a multicenter study Am J Hum Genet 77 945 957
36. KP Steel CJ Kros 2001 A genetic approach to understanding auditory function Nat Genet 27 143 149
37. HY Tang P Fang PA Ward E Schmitt S Darilek S Manolidis JS Oghalai BB Roa RL Alford 2006 DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls Am J Med Genet 140 2401 2415
38. E Thönnissen R Rabionet ML Arbonès X Estivill K Willecke T Ott 2002 Human connexin 26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression Hum Genet 111 190 197
39. G Van Camp PJ Willems RJ Smith 1997 Nonsyndromic hearing impairment: unparalleled heterogeneity Am J Hum Genet 60 758 764
40. HL Wang WT Chang AH Li TH Yeh CY Wu MS Chen 2003 Huang PC (2003) Functional analysis of connexin-26 mutants associated with hereditary recessive deafness J Neurochem 84 735 742
41. D Wattanasirichaigoon C Limwongse C Jariengprasert PT Yenchitsomanus C Tocharoenthanaphol W Thongnoppakhun C Thawil D Charoenpipop T Pho-iam S Thongpradit P Duggal 2004 High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals Clin Genet 66 452 460
42. BL Wu N Lindeman V Lip A Adams RS Amato G Cox M Irons M Kenna B Korf J Raisen O Platt 2002 Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing Genet Med 4 279 288
43. ZA Xiao DH Xie 2004 GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation Chin Med J 117 1797 1801
44. D Yan HJ Park XM Ouyang A Pandya K Doi R Erdenetungalag LL Du N Matsushiro WE Nance AJ Griffith XZ Liu 2003 Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians Hum Genet 114 44 50
45. I Yuge A Ohtsuka T Matsunaga S Usami 2002 Identification of 605ins46, a novel GJB2 mutation in a Japanese family Auris Nasus Larynx 29 379 382
46. L Zelante P Gasparini X Estivill S Melchionda L D'Agruma N Govea M Milá MD Monica J Lutfi M Shohat E Mansfield K Delgrosso E Rappaport S Surrey P Fortina 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans Hum Mol Genet 6 1605 1609