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Article

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

American journal of medical genetics. Part A - 1 Aug 2022

Kaw Anita, Kaw Kaveeta, Hostetler Ellen M, Beleza-Meireles Ana, Smith-Collins Adam, Armstrong Catherine, Scurr Ingrid, Cotts Timothy, Aatre Rajani, Bamshad Michael J, Earl Dawn, Groner Abraham, Agre Katherine, Raveh Yehuda, Kwartler Callie S, Milewicz Dianna M

Abstract excerpt

Pathogenic variants in ACTA2, encoding smooth muscle α-actin, predispose to thoracic aortic aneurysms and dissections. ACTA2 variants altering arginine 179 predispose to a more severe, multisystemic disease termed smooth muscle dysfunction syndrome (SMDS; OMIM 613834). Vascular complications of SMDS include patent ductus arteriosus (PDA) or aortopulmonary window, early-onset thoracic aortic disease (TAD),...

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Identifiers

PMID: 35567597
DOI: 10.1002/ajmg.a.62775
PMCID: PMC9283281

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