Article
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.
American journal of medical genetics. Part A - 1 Mar 2012
Richer J, Milewicz D M, Gow R, de Nanassy J, Maharajh G, Miller E, Oppenheimer L, Weiler G, O'Connor M
Abstract excerpt
Mutations in ACTA2 (smooth muscle cell-specific isoform of α-actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More recently, the ACTA2 R179H mutation has been described in individuals with global smooth muscle dysfunction. We report a patient heterozygous for the mutation in ACTA2 R179H who presented with megacystis at 13 weeks gestational age and, at birth, with...
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