GJB2 mutations in hearing impairment: Identification of a broad clinical spectrum for improved genetic counseling

Laryngoscope

Volumn 115, Issue 3, 2005, Pages 461-465

  Frei, Klemens ^a   Ramsebner, Reinhard ^a   Lucas, Trevor ^a   Hamader, Gertrude ^a   Szuhai, Károly ^c   Weipoltshammer, Klara ^a   Baumgartner, Wolf Dieter ^a   Wachtler, Franz J ^a   Kirschhofer, Karin ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b KRANKENHAUS DER BARMHERZIGEN BRÜDER   (Austria)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Austria; Connexin 26; Del(GJB6 B13S1830); GJB2; Hearing impairment; Mutation

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION BETA 2 PROTEIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION;

CHROMOSOME DELETION; CONNEXINS; GENES, RECESSIVE; GENETIC COUNSELING; HEARING LOSS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION; PREVALENCE; SEQUENCE ANALYSIS, DNA;

EID: 14744271102     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mlg.0000157855.47143.71     Document Type: Article

References (14)

1. Van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1991;60:758-765.
2. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-83.
3. Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999;23:16-18.
4. Del Castillo I, Moreno-Pelayo MA, Del Castello FJ, et al. 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;73:1452-1458.
5. Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-1609.
6. Scott DA, Kraft ML, Carmi R, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998;11:387-394.
7. Frei K, Szuhai K, Lucas T, et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet 2002;10:427-432.
8. Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-2177.
9. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-398.
10. Frei K, Ramsebner R, Lucas T, et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear Res 2004;196:115-118.
11. Kelley, PM, Harris DJ, Comer BC, 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.
12. Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26 gene linked to a dominant deafness. Nature 1998;393:319-320.
13. Murgia A. Orzan E, Polli R, et al. GJB2 deafness: mutation analysis and clinical variability. J Med Genet 1999;36:829-832.
14. Frei K, Lucas T, Ramsebner R, et al. A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. Audiol Neurootol 2004;9:47-50.