A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Genetics and Molecular Biology

Volumn 29, Issue 3, 2006, Pages 443-445

  Rabionet, Raquel ^a   Morales Peralta, Estela ^b   Lópes Bigas, Núria ^a   Arbonés, Maria Lourdes ^a   Estivill, Xavier ^a  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b National Center of Medical Genetics   (Cuba)

Author keywords

Connexin 26; DFNA3; GJB2; Hearing impairment

Indexed keywords

CONNEXIN 26; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; CUBA; DNA DETERMINATION; FAMILY ASSESSMENT; GENE DELETION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; PATHOPHYSIOLOGY; PHENOTYPE;

EID: 33748658023     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572006000300006     Document Type: Article

References (23)

1. Abe S, Usami S, Shinkawa H, Kelley PM and Kimberling WJ (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 37:41-3.
2. Bruzzone R, White TW and Goodenough DA (1996) The cellular Internet: On-line with connexins. Bioessays 18:709-18.
3. Cohen MM and Gorlin RJ (1995) Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV and Cohen MM (eds) Hereditary Hearing Loss and its Syndromes. Oxford University Press, Oxford, pp 9-21.
4. del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius. MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F and del Castillo I (2005) A novel deletion involving the connexin-30 gene, del(GJB6d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1. non-syndromic hearing impairment. J Med Genet 42:588-94.
5. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I and Moreno F (2002) A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 346:243-9.
6. Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D and Petit C (1998) Connexin 26 gene linked to a dominant deafness. Nature 393:319-20.
7. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda, S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L and Gasparini P (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-8.
8. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L and Estivill X (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 8:19-23.
9. Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW and Horstmann RD (2001) Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 18:84-5.
10. Heathcote K, Syrris P, Carter ND and Patton MA (2000) A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 37:50-1.
11. Loffler J, Nekahm. D, Hirst-Stadlmann A, Gunther B, Menzel HJ, Utermann G and Janecke AR (2001) Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur J Hum Genet 9:226-30.
12. Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP and Munro CS (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 8:1237-43.
13. Morle L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J and Lina-Granade G (2000) A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. J Med Genet 37:368-70.
14. Nadol JB (1993) Hearing Loss. N Engl J Med 329:1092-1102.
15. Primignani P, Castorina P, Sironi F, Curcio C, Ambrosetti U and Coviello DA (2003) A novel dominant missense mutation D1-79N-in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. Clin Genet 63:516-21.
16. Rabionet R, Zelante L, Lopez-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbones ML, Gasparini P and Estivill. X (2000) Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 106:40-4.
17. Richard G, Brown N, Ishida-Yamamoto A and Krol A (2004) Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 123:856-63.
18. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovarma JJ, Uitto J and Russell L (2002) Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitisichthyosis-deafness syndrome. Am J Hum Genet 70:1341-8.
19. Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL and Bale SJ (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103:393-9.
20. Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB and Richard G (2001) trans-dominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci 114:2105-13.
21. Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K and Van Camp G (2005) Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum Mutat 26:60-1.
22. Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, Bonne-Tamir B and Shohat M (1999) High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 86:499-500.
23. Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M and Wollnik B (2002) The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin Genet 62:306-9.