ترافق طفرات الجينين GJB6 و GJB2 لدى مرضى سوريين يعانون من فقد السمع الخلقي المتنحي غير المرافق للمتلازمات

الملخص EN

Research studies of congenital hearing impairment in the Syrian population are still in their infancy.

Till now, No clear data about the causative mutations except GJB2 mutations are available.

Our study aimed to estimate the coexistence of GJB6 and GJB2 mutations, in order to validate an efficient procedure for molecular diagnosis and genetic counseling.

GJB6 mutations were screened by PCR in 41 patients with congenital recessive non-syndromic hearing loss patients who were previously analyzed for GJB2 exon 2 mutations.

Coexistence of GJB2 and GJB6 mutations was not encountered, as del(GJB6-D13S1830) was found in homozygosity in only one case with a wild type GJB2 gene (2.9%).

Efficiency of molecular diagnosis and genetic counseling does not seem guaranteed in our population when screening for del(GJB6-D13S1830) is confined to heterozygotes for a GJB2 mutation