Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Mesomelic dysplasia Savarirayan type is a rare inheritable skeletal malformation with the main feature being severe shortness of the lower legs. We investigated the DNA of four distinct patients with this condition and found a small deletion of four genes in all three of them. The deletion is located on the short arm of chromosome 6. Due to the increasing knowledge acquired by mouse models, it is unlikely that the deletion of one of the genes is causing this highly recognizable condition. We therefore speculate that the disorder is caused by relocation of regulatory elements causing a positions effect. (By Dr. Dr. med. Malte Spielmann, http://jmg.bmj.com/content/early/2015/06/01/jmedgenet-2015-103108 )


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