De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

DM Milewicz, JR Østergaard… - American Journal of …, 2010 - Wiley Online Library
DM Milewicz, JR Østergaard, LM Ala‐Kokko, N Khan, DK Grange, R Mendoza‐Londono
American Journal of Medical Genetics Part A, 2010Wiley Online Library
Smooth muscle cells (SMCs) contract to perform many physiological functions, including
regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the
gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular
expression of the SMC isoform of α‐actin, encoded by the ACTA2 gene. We report here on a
unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by
dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease …
Abstract
Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α‐actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. © 2010 Wiley‐Liss, Inc.
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