De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Publication/Presentation Date
10-1-2010
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.
Volume
152A
Issue
10
First Page
2437
Last Page
2443
ISSN
1552-4833
Published In/Presented At
Milewicz, D. M., Østergaard, J. R., Ala-Kokko, L. M., Khan, N., Grange, D. K., Mendoza-Londono, R., Bradley, T. J., Olney, A. H., Adès, L., Maher, J. F., Guo, D., Buja, L. M., Kim, D., Hyland, J. C., & Regalado, E. S. (2010). De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. American journal of medical genetics. Part A, 152A(10), 2437–2443. https://doi.org/10.1002/ajmg.a.33657
Disciplines
Medicine and Health Sciences
PubMedID
20734336
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article