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  • Title: Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
    Author: Zaidieh T, Habbal W, Monem F.
    Journal: Genet Test Mol Biomarkers; 2015 Jul; 19(7):405-7. PubMed ID: 25989237.
    Abstract:
    BACKGROUND: Research into the genetics of congenital hearing impairment in the Syrian population, where cases are noticeably encountered, is still in its infancy. AIMS: Our goal was to estimate the frequencies of the del(GJB6-D13S1830) and del(GJB6-D13S1854) mutations in a group of Syrians with autosomal recessive nonsyndromic hearing loss (ARNSHL). METHODS: Forty-one unrelated Syrian probands, already screened for exon 2, GJB2 gene mutations, were reanalyzed for del(GJB6-D13S1830) and del(GJB6-D13S1854) mutations by polymerase chain reaction. RESULTS: The del(GJB6-D13S1830) mutation was only found in homozygosity in 1 of 41 probands (2.43%), while the del(GJB6-D13S1854) mutation was not detected in any of the enrolled patients. Coexistence of GJB2 and GJB6 mutations was not encountered in any case. CONCLUSIONS: Our study reports the first case in Syria with the del(GJB6-D13S1830) mutation. This mutation might be considered in the diagnosis and genetic counseling of inherited hearing impairment in the Syrian population.
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