Disorders

Multisystemic Smooth Muscle Dysfunction Syndrome

Synonym(s): Mydriasis, Congenital, with Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy

Gene	Locus	Protein
ACTA2	10q23.31	Actin, aortic smooth muscle

Laboratory	Test Method	Prenatal	Carrier *
Health in Code S.L. - A Coruña, Spain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.