Article
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
American journal of medical genetics. Part A - 1 Apr 2017
Logeswaran Thushiha, Friedburg Christoph, Hofmann Karoline, Akintuerk Hakan, Biskup Saskia, Graef Michael, Rad Ali, Weber Axel, Neubauer Bernd A, Schranz Dietmar, Bouvagnet Patrice, Lorenz Birgit, Hahn Andreas
Abstract excerpt
De novo heterozygous mutations changing R179 to histidine, leucine, or cysteine in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood,...
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