Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

Clinical Genetics

Volumn 61, Issue 6, 2002, Pages 459-464

  Bason, L ^a   Dudley, T ^a   Lewis, K ^a   Shah, U ^a   Potsic, W ^a   Ferraris, A ^b   Fortina, P ^b   Rappaport, E ^a   Krantz, Ian D ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Connexin 26; Deafness; Missense mutation; Pyrosequencing; Sensorineural hearing loss; V37I

Indexed keywords

CONNEXIN 26;

ARTICLE; ASIA; AUTOSOMAL RECESSIVE INHERITANCE; CAMBODIA; CASE REPORT; CHILDHOOD DISEASE; CHINESE; DOMINANT GENE; ETHNOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; JAPAN; JEW; MALE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PHILIPPINES; PRESCHOOL CHILD; PRIORITY JOURNAL; TRANSCRIPTION TERMINATION;

CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; POINT MUTATION;

EID: 12244265494     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610611.x     Document Type: Article

References (27)

1. Nadol JB. Hearing loss. N Engl J Med 1993: 329: 1092-1102.
2. Morton NE. Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991: 630: 16-31.
3. Cohen MM, Gorlin RJ. Epidemiology, aetiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, Jr (Eds) Hereditary hearing loss and its syndromes. Oxford: Oxford University Press, 1995, 9-21.
4. Van Camp G, Willems PJ, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997: 60: 758-764.
5. Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, et al. A non syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994: 6: 24-28.
6. Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, et al. Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. Eur J Hum Genet 1997: 5: 83-88.
7. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997: 387: 80-83.
8. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997: 6: 1605-1609.
9. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998: 351: 394-398.
10. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, 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.
11. Rabionet R, Zelante L, L'Ópez-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000: 106: 40-44.
12. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, et al. Novel mutations in the Connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998: 62: 792-799.
13. 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 GJB2 35delg. Eur J Hum Genet 2000: 8: 19-23.
14. Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000: 106: 399-405.
15. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998: 339: 1500-1505.
16. Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, et al. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 1999: 86: 499-500.
17. Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T. Three novel connexin 26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 1999: 10: 1853-1857.
18. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000: 37: 41-43.
19. Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe K, Kawase T, 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.
20. Prasad S, Cucci RA, Green GE, Smith RJ. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mut 2000: 16: 502-508.
21. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001: 127: 1037-1042.
22. Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat 2001: 18: 42-51.
23. Marlin S, Garabedian EN, Roger G, Moatti L, Matha N, Lewin P, et al. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counselling. Arch Otolaryngol Head Neck Surg 2001: 127: 927-3328.
24. Antoniadi T, Gronskov K, Sand A, Pampanos A, Brondum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000: 16: 7-12.
25. Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J. Mutations in the connexin 26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 2001: 17: 521-522.
26. Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 2001: 18: 84-85.
27. Löffler J, Nekahm D, Hirst-Stadlmann A, Gunther B, Menzel HJ, Utermann G, et al. Sensorineural hearing loss and the incidence of Cx26 mutations In Austria. Eur J Hum Genet 2001: 9: 226-230.