Identification of a novel homozygous mutation in the gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing.

Objectives: The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes. Defective function of a conserved region encoding discoidin domain receptor tyrosine kinase 2 (DDR2 protein) by the discoidin domain-containing receptor 2 ( gene) is cause of this disease. The purpose of present study was to investigate disease-causing mutations on gene in an Iranian family with SMED, and predict the DDR2 protein molecular mechanism in development of SMED.