A novel hearing loss-related mutation occurring in the GJB2 basal promoter

Journal of Medical Genetics

Volumn 44, Issue 11, 2007, Pages 721-725

  Matos, T D ^a,d   Caria, H ^a,b   Simoes Teixeira H ^a   Aasen, T ^d   Nickel, R ^e   Jagger, D J ^e   O'Neill, A ^c   Kelsell, David P ^d,f   Fialho, G ^a  

^a UNIVERSITY OF LISBON   (Portugal)

^b INSTITUTO POLITÉCNICO DE SETÚBAL   (Portugal)

^c HOSPITAL EGAS MONIZ   (Portugal)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f Institute of Cell and Molecular Science   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION BETA 2 PROTEIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN CACO 2; CELL STRAIN HEK293; EMBRYO; EXON; FEMALE; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HEARING LOSS; HELA CELL; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD;

EID: 36348942860     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.050682     Document Type: Article

References (20)

1. Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet 2006;69:371-92.
2. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-74.
3. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243-9.
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, del Castillo I. 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 hearing impairment. J Med Genet 2005;42:588-94.
5. del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003;73:1452-8.
6. Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol 2004;56:730-4.
7. IonasescuVV, Searby C, Ionasescu R, Neuhaus IM, Werner R. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1996;47:541-4.
8. Wang HL, Wu T, Chang WT, Li AH, Chen MS, Wu CY, Fang W. Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. Brain Res Mol Brain Res 2000;78:146-53.
9. Jagger DJ, Forge A. Compartmentalized and signal-selective gap junctional coupling in the bearing cochlea. J Neurosci 2006;26:1260-8.
10. Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MX, Morell R, Nance WE. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 2003;5:295-303.
11. Cheng X, Li L, Brashears S, Morlet T, Ng SS, Berlin C, Hood L, Keats B. Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. Am J Med Genet A 2005;139:13-18.
12. Tu ZJ, Kiang DT. Mapping and characterization of the basal promoter of the human connexin26 gene. Biochim Biophys Acta 1998;1443:169-81.
13. Kikuchi T, Kimar RS, Paul DL, Adams JC. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol 1995;191:101-18.
14. Beltramello M, Piazza V, Bukauskas FF, Pozzan T, Mammano F. Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 2005;7:63-9.
15. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999;353:1298-303.
16. Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 2001;38:20-5.
17. Roux AF, Pallares-Ruiz N, Vielle A, Faugere V, Templin C, Leprevost D, Artieres F, Lina G, Molinari N, Blanchet P, Mondain M, Claustres M. Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet 2004;5:5.
18. Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL. 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 A 2006;140:2401-15.
19. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281:2211-16.
20. Kiang DT, Jin N, Tu ZJ, Lin HH. Upstream genomic sequence of the human connexin26 gene. Gene 1997;199:165-71.