Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

Acromicric dysplasia and geleophysic dysplasia are both forms of acromelic dysplasia.  Several causative genes have been identified for the acromelic dysplasias, all of which affect TGF-β signalling and/or interactions with fibrillin.  Here, we have used massive parallel sequencing to identify a dominant mutation in latent TGF-β binding protein-3 (LTBP3) in a family with acromicric dysplasia, and de novo mutations in LTBP3 causing geleophysic dysplasia in two separate unrelated individuals. We conclude that LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum. (By Aideen McInerney-Leo, http://jmg.bmj.com/content/early/2016/04/11/jmedgenet-2015-103647 )