کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4114651 1606073 2009 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic evaluation of American minority pediatric cochlear implant recipients
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
Genetic evaluation of American minority pediatric cochlear implant recipients
چکیده انگلیسی

SummaryObjectiveTo review the results of genetic evaluation of American minority pediatric cochlear implant recipients over a 5-year period.MethodsCase series review of pediatric cochlear implant recipients of Caribbean Hispanic and African American admixture descent with severe to profound sensorineural hearing loss at a tertiary care children's hospital.ResultsOut of 28 patients receiving cochlear implants, 14 were of Caribbean Hispanic or African American admixture ancestry. Six (43%) had environmental risk factors for sensorineural hearing loss. Eight (57%) patients had presumed genetic sensorineural hearing loss; two of whom were syndromic and six non-syndromic. Patients with no clear etiology for hearing loss were tested for Gap Junction Beta 2 (GJB2) mutations. Within this admixture group, we found no biallelic mutations in GJB2, while two patients, both with environmental risk factors for sensorineural hearing loss, had monoallelic GJB2 variants. One patient of mixed ethnicity (Caribbean Hispanic, Turkish, Macedonian), not included as part of the 14, had the common Caucasian founder mutation, 35delG, along with a heterozygous polymorphism in the GJB2 gene. This extends previous data showing a paucity of GJB2 mutations in these admixture populations.ConclusionsWe found no biallelic GJB2 mutations in our admixture cochlear implant population, and two sequence variants of the gene, only one of which was disease causing. This suggests that the incidence of GJB2 mutations in these admixture populations is low. Hence, there may be low cost–benefit of GJB2 mutation analysis in these admixture populations with severe to profound non-syndromic sensorineural hearing loss.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 73, Issue 2, February 2009, Pages 195–203
نویسندگان
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