title: De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
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.
authors: Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA. dianna.m.miledwicz@uth.tmc.edu
authors: Dianna M
authors: DM
authors: Milewicz
authors: John R
authors: JR
authors: Østergaard
authors: Leena M
authors: LM
authors: Ala-Kokko
authors: Nadia
authors: N
authors: Khan
authors: Dorothy K
authors: DK
authors: Grange
authors: Roberto
authors: R
authors: Mendoza-Londono
authors: Timothy J
authors: TJ
authors: Bradley
authors: Ann Haskins
authors: AH
authors: Olney
authors: Lesley
authors: L
authors: Adès
authors: Joseph F
authors: JF
authors: Maher
authors: Dongchuan
authors: D
authors: Guo
authors: L Maximilian
authors: LM
authors: Buja
authors: Dong
authors: D
authors: Kim
authors: James C
authors: JC
authors: Hyland
authors: Ellen S
authors: ES
authors: Regalado
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D000784:Aortic Dissection / Q000235:genetics / Q000601:surgery; D000818:Animals; D001011:Aorta / Q000473:pathology; D001014:Aortic Aneurysm / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002561:Cerebrovascular Disorders / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D009130:Muscle, Smooth / Q000473:pathology*; D009131:Muscle, Smooth, Vascular / Q000473:pathology; D009154:Mutation; D020125:Mutation, Missense; D014652:Vascular Diseases / Q000235:genetics* / Q000601:surgery
chemical_list: C541116:ACTA2 protein, human; D000199:Actins