Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in the Iranian population, with an incidence of 1 in 166 live births. In the present study, the whole exome sequencing (WES) method was applied to identify the mutation spectrum of NSHL patients negative for GJB2 gene mutations. First, using ARMS PCR followed by Sanger sequencing of the GJB2 gene, 63.

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).

Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.

Significant Association of miR-605 rs2043556 with Susceptibility to Breast Cancer.

Background: MicroRNAs (miRNAs) are noncoding RNA molecules, which directly regulate gene expression. It has been documented that single nucleotide polymorphisms in miRNA genes could alter the regulation of miRNA expression and function.

Objective: In this study, the allele and genotype frequency of miR-605 rs2043556 and its association with breast cancer were investigated in the Iranian population.