Smith-McCort dysplasia

Definition:

Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence and no microcephaly. SMC has been shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been identified in a SMC family. RAB33B is another Golgi protein involved in retrograde transport of Golgi vesicles.

References:

[1]. Nina Dupuis, et al. A novel RAB33B mutation in Smith-McCort dysplasia. Hum Mutat. 2013 Feb;34(2):283-6. [Content Brief]

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