novel mutation of SLC26A4 gene in an Iranian family with pendred syndrome

In the diagnosis of Pendred syndrome, assessment of individuals by molecular analysis of the SLC26A4 gene is recommended. Here we report a novel mutation in the SLC26A4 gene as revealed by denaturing high performance liquid chromatography [DHPLC] and DNA sequencing of the entire coding region of the SLC26A4 gene in five members of an Iranian family affected with Pendred syndrome. This is the first report of the molecular investigation of Pendred syndrome in Iran and the first report of the R79X mutation

[Relative frequency of 35delG mutation in GJB2 gene in autosomal recessive non-syndromic hearing loss [ARNSHL] patients in Kerman population]

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 [Gap Junction Beta-2] gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this stand was to study the frequency of one mutation [35delG] of GJB2 gene in Kerman non-syndromic deaf population. For this purpose, 130 chromosomes from 65 patients were studied and 35delG mutation was diagnosed in 3 [2.3%] chromosomes [one patient was homozygote and the other one was heterozygote]. This rate of frequency is significantly higher comparing to that in the whole population of Iran