lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. to date, seven causative genes for arci have been identified. to understand further the genetic spectrum of the disease, we analyzed a four-generation iranian family with arci that had observable inheritance. exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous iranian family...

In Iran and the rest of the world, breast cancer (BC) is the most common malignancy in women. Familial history and age are significant risk factors for the development of this disease in Iran. Most hereditary BCs are associated with inherited mutations in the BRCA1 and BRCA2 genes. Some recent studies demonstrated that BRCA1 mutations are seen in high-risk women with family histories of BC. In ...

BACKGROUND Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. METHO...

severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids), with known or unknown genetic alterations. here, we report a new interleukin 2 receptor, gamma chain (il-2rg) mutation in an iranian scid newborn.the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t...

Background and Aims: One of the most important genes involved in Alzheimer's disease (AD) is the presenilin2 (PSEN2) gene, which is one of the main constituents of the gamma-secretase complex. Mutations in this gene promote the formation of amyloid plaques resulting in AD. The study aimed to evaluate the mutation variant in exon 6 of the PSEN2 gene in patients with Late-Onset AD (LOAD). Due to ...