A Point Mutation in Causes Autosomal-Dominant Penttinen Syndrome

Penttinen syndrome is a distinctive disorder characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. All individuals have been simplex cases. Exome sequencing of an affected individual identified a de novo c.1994T>C p.Val665Ala variant in PDGFRB, which encodes the platelet-derived growth factor receptor β. Three additional unrelated individuals with this condition were shown to have the identical variant in PDGFRB.

Source: The American Journal of Human Genetics - August 13, 2015 Category: Genetics & Stem Cells Authors: Jennifer J. Johnston, Monica Y. Sanchez-Contreras, Kim M. Keppler-Noreuil, Julie Sapp, Molly Crenshaw, NiCole A. Finch, Valerie Cormier-Daire, Rosa Rademakers, Virginia P. Sybert, Leslie G. Biesecker Tags: Report Source Type: research