Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type

摘要: Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature leading to severe disproportionate stature. Twenty-two patients have been reported until now, but only five mutations (four missense and one splice-site) in the conserved sequence encoding tyrosine kinase domain of DDR2 gene has identified. We report here novel mutation, c.370C > T (p.Arg124Trp) Moroccan girl SMED, SL-AC, identified whole exome sequencing. Our study expanded mutational spectrum this disease it shown that sequencing powerful cost-effective tool for diagnosis clinically heterogeneous disorders such as SMED.