Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.

摘要

PURPOSE: To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects. METHODS: The coding region of the connexin 26 gene was sequenced in both directions to detect mutation in all 756 samples. RESULTS: Among the 756 samples tested, 21 connexin 26 variants were detected, including 7 novel ones. The 235delC mutation was the most common, accounting for 57.6% of the mutant alleles. Among patients, 48 (14.8%) had connexin 26 gene mutations. In the control group, the carrier rate of connexin 26 mutation was estimated at 2.8%. CONCLUSION: The mutation spectrum of the connexin 26 gene is wide, with more than half of the patients having only one mutation detected. Thus, further efforts are needed to look for possible existence of a second mutant allele.