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- Title
LONGITUDINAL PHENOTYPIC ANALYSIS IN PATIENTS WITH CONNEXIN 26 (GJB2) (DFNB1) AND CONNEXIN 30 (GJB6) MUTATIONS.
- Authors
Stinckens, Christel; van Wijk, Erwin; Standaert, Lieve; Hoefsloot, Lies H.; Fryns, Jean Pierre; Hannie Kremer; Huygens, Patrick L.; Cremers, Cor W. R. J.
- Abstract
In 15 Belgian subjects with prelingual sensorineural hearing impairment, the connexin 26 (GJB2) gene and the connexin 30 (GJB6) gene were analyzed for the presence of the 35delG mutation and the Δ(GJB6-D13S1830) deletion first described by del Castillo et al in 2002. Seven patients were found to be homozygous for the 35delG mutation; 7 were combined heterozygotes for the 35delG mutation and the GJB6 deletion. In 11 subjects, phenotype and genotype were correlated. Significant, transient progression, in the range of 1.7 to 2.7 dB/y, was only found in 2 patients in the first part of the second decade of life. Hearing impairment was otherwise stable, with mean thresholds of 75, 90, and 100 dB at 0.125, 0.25, and 0.5 kHz, respectively, and 100 dB or higher at 1 to 4 kHz. There was no significant difference in hearing impairment between the patients with the homozygous 35delG mutation in GJB2 and those who are heterozygous for both the 35delG mutation and the deletion encompassing part of GJB6.
- Subjects
CONNEXINS; DEAFNESS; HEARING disorders; GENETIC mutation; GENES; PATIENTS; DEAF people
- Publication
Annals of Otology, Rhinology & Laryngology, 2004, Vol 113, Issue 7, p587
- ISSN
0003-4894
- Publication type
Article
- DOI
10.1177/000348940411300714