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

作者：Mansouri Maria^*; Kayserili Hulya; Elalaoui Siham Chafai^*; Nishimura Gen; Iida Aritoshi; Lyahyai Jaber; Miyake Noriko; Matsumoto Naomichi; Sefiani Abdelaziz; Ikegawa Shiro

来源：American Journal of Medical Genetics, Part A, 2016, 170(2): 460-465.

DOI：10.1002/ajmg.a.37426

• spondylo-meta-epiphyseal dysplasia
• short limb-abnormal calcification type
• DDR2
• novel mutation
• exome sequencing

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

• 出版日期2016-2
• 单位RIKEN