کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4113335 1606036 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania
چکیده انگلیسی

ObjectiveHearing loss is one of the major public health problems, with a genetic etiology in more than 60% of cases. Connexin 26 and connexin 30 mutations are the most prevalent causes of deafness. The aim of this study is to characterize and to establish the prevalence of the GJB2 and GJB6 gene mutations in a population of cochlear implanted recipients from Eastern Romania, this being the first report of this type in our country.MethodsWe present a retrospective study that enrolled 45 Caucasian cochlear implanted patients with non-syndromic sensorineural severe to profound, congenital or progressive with early-onset idiopathic hearing loss. We performed sequential analysis of exon 1 and the coding exon 2 of the GJB2 gene including also the splice sites and analysis of the deletions del(GJB6-D13S1830), del(GJB6-D13S1854) and del(chr13:19,837,343–19,968,698).ResultsThe genetic analysis of the GJB2 gene identified connexin 26 mutations in 22 patients out of 45 (12 homozygous for c.35delG, 6 compound heterozygous and 4 with mutations only on one allele). We found 6 different mutations, the most prevalent being c.35delG – found on 32 alleles, followed by p.W24* – found on 2 alleles. We did not identify the deletions del(GJB6-D13S1830), del(GJB6-D13S1854) and del(chr13:19,837,343–19,968,698).ConclusionsAlthough the most prevalent mutation was c.35delG (80% from all types of mutations), unexpectedly we identified 5 more different mutations. The presence of 6 different mutations on the GJB2 gene has implications in hearing screening programs development in our region and in genetic counseling.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 76, Issue 1, January 2012, Pages 90–94
نویسندگان
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