WHEN SHOULD ONE LOOK FOR IVS1+1G>A SPLICE MUTATION IN PATIENTS WITH NONSYNDROMIC SENSORINEURAL HEARING LOSS?
Journal Title: Journal of Hearing Science - Year 2014, Vol 4, Issue 2
Abstract
Background: The splice site nucleotide substitution IVS1+1G>A in the non-coding part of the GJB2 gene is one of the recessive pathogenic mutations causing nonsyndromic sensorineural hearing loss (NSHL). We present here the results of a study of IVS1+1G>A among Belarusian patients with NSHL as well as among Belarusian controls with normal hearing. Materials and methods: The PCR-RFLP method was used for genotyping. All tested patients were subdivided into three groups: those who carried only one mutant allele of GJB2 exon 2 (group A, 28 patients), those with no mutation of GJB2 exon 2 (group B, 150 patients), and patients with two mutations previously detected in the second exon of GJB2 or with one mutation and a large GJB6 deletion ∆D13S1830 (group C, 223 patients). Also 300 Belarusian people with normal hearing were screened for IVS1+1G>A. Results: We detected 7 patients with IVS1+1G>A mutation in the A group, which explained hearing loss in 25% of this deafness cohort. None of the B or C group patients carried the IVS1+1G>A mutation. We also did not find any IVS1+1G>A mutation carriers among the 300 Belarusian control people with normal hearing. Conclusions: IVS1+1G>A is the third-most frequent mutation (after 35delG and 312del14) among Belarusian patients with NSHL; its rate is 1.8% for the patient cohort we studied and the population frequency is below 0.33%. We propose to include the IVS1+1G>A mutation into a laboratory screening protocol for those patients with NSHL that carry one mutant allele of GJB2 exon 2.
Authors and Affiliations
Olga Shubina-Oleinik, Marina Siniauskaya, Elena Merkulava, Anastasia Levaya-Smaliak, Oleg Davydenko, Nina Danilenko
Keywords
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THE 13TH HEARING AND STRUCTURE PRESERVATION WORKSHOP
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EDITORIAL
I invite you to read the first number of the Journal of Hearing Science for 2015.