Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.

Background: Short-stature (SS) is multifactorial pathologic condition that originates from either genetic or environmental factors. The diagnosis is based on family history, clinical findings, radiological examination and genetic analysis. A variety of genes have been reported for SS, among which FGFR-3 was the main gene in achondroplasia and hypochondroplasia.

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia.

Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics laboratories. Here, we present ADCK3; del.

The influence of combined genotypes of the HLADRB1*1501 and CD24 single nucleotide polymorphism on disease severity of Iranian multiple sclerosis patients.

Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. It is a clinically heterogeneous disorder especially in terms of disease severity. Current investigations suggest that genes and gene-gene interactions not only influence on susceptibility to MS but also affect the disease severity.

Investigation of CD24 and its expression in Iranian relapsing-remitting multiple sclerosis.

CD24 is a glycosylphosphatidylinositol (GPI)-linked cell surface glycoprotein expressed in central nervous system cells. Recent investigations have suggested that CD24 participates in the pathogenesis of experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis (MS). However, a limited number of studies have been published regarding the contribution of CD24 to the risk and severity of MS in humans.