Literature DB >> 20734336

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

Dianna M Milewicz1, John R Østergaard, Leena M Ala-Kokko, Nadia Khan, Dorothy K Grange, Roberto Mendoza-Londono, Timothy J Bradley, Ann Haskins Olney, Lesley Adès, Joseph F Maher, Dongchuan Guo, L Maximilian Buja, Dong Kim, James C Hyland, Ellen S Regalado.   

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.
Copyright © 2010 Wiley-Liss, Inc.

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Year:  2010        PMID： 20734336      PMCID： PMC3573757          DOI： 10.1002/ajmg.a.33657

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  27 in total

1.  Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.

Authors:  L C Adès; R Davies; E A Haan; K J Holman; K C Watson; D Sreetharan; S N Cao; D M Milewicz; J F Bateman; A A Chiodo; M Eccles; L McNoe; M Harbord
Journal:  Clin Dysmorphol       Date:  1999-10       Impact factor: 0.816

2.  Clinicopathologic reports, case reports, and small case series: congenital mydriasis, failure of accommodation, and patent ductus arteriosus.

Authors:  Michael H Gräf; Andrea Jungherr
Journal:  Arch Ophthalmol       Date:  2002-04

Review 3.  Theoretical analysis of mutation hotspots and their DNA sequence context specificity.

Authors:  Igor B Rogozin; Youri I Pavlov
Journal:  Mutat Res       Date:  2003-09       Impact factor: 2.433

4.  Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

Authors:  Hiroko Morisaki; Koichi Akutsu; Hitoshi Ogino; Norihiro Kondo; Itaru Yamanaka; Yoshiaki Tsutsumi; Tsuyoshi Yoshimuta; Toshiya Okajima; Hitoshi Matsuda; Kenji Minatoya; Hiroaki Sasaki; Hiroshi Tanaka; Hatsue Ishibashi-Ueda; Takayuki Morisaki
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

5.  Actin and tropomyosin variants in smooth muscles. Dependence on tissue type.

Authors:  V Fatigati; R A Murphy
Journal:  J Biol Chem       Date:  1984-12-10       Impact factor: 5.157

6.  Vascular smooth muscle cells differ from other smooth muscle cells: predominance of vimentin filaments and a specific alpha-type actin.

Authors:  G Gabbiani; E Schmid; S Winter; C Chaponnier; C de Ckhastonay; J Vandekerckhove; K Weber; W W Franke
Journal:  Proc Natl Acad Sci U S A       Date:  1981-01       Impact factor: 11.205

7.  At least six different actins are expressed in a higher mammal: an analysis based on the amino acid sequence of the amino-terminal tryptic peptide.

Authors:  J Vandekerckhove; K Weber
Journal:  J Mol Biol       Date:  1978-12-25       Impact factor: 5.469

8.  Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse.

Authors:  L A Schildmeyer; R Braun; G Taffet; M Debiasi; A E Burns; A Bradley; R J Schwartz
Journal:  FASEB J       Date:  2000-11       Impact factor: 5.191

9.  Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?

Authors:  Nadia Khan; Albert Schinzel; Bernhard Shuknecht; Fabian Baumann; John R Østergaard; Yasuhiro Yonekawa
Journal:  Eur Neurol       Date:  2004-01-16       Impact factor: 1.710

Review 10.  Decreased expression of smooth muscle alpha-actin results in decreased contractile function of the mouse bladder.

Authors:  R A Zimmerman; J J Tomasek; J McRae; C J Haaksma; R J Schwartz; H K Lin; R L Cowan; A N Jones; B P Kropp
Journal:  J Urol       Date:  2004-10       Impact factor: 7.450
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  77 in total

1.  New Insights Into Aortic Diseases: A Report From the Third International Meeting on Aortic Diseases (IMAD3).

Authors:  Helena Kuivaniemi; Natzi Sakalihasan; Frank A Lederle; Gregory T Jones; Jean-Olivier Defraigne; Nicos Labropoulos; Victor Legrand; Jean-Baptiste Michel; Christoph Nienaber; Marc A Radermecker; John A Elefteriades
Journal:  Aorta (Stamford)       Date:  2013-06-01

Review 2.  Stroke Risk Factors, Genetics, and Prevention.

Authors:  Amelia K Boehme; Charles Esenwa; Mitchell S V Elkind
Journal:  Circ Res       Date:  2017-02-03       Impact factor: 17.367

3.  NLRP3 (Nucleotide Oligomerization Domain-Like Receptor Family, Pyrin Domain Containing 3)-Caspase-1 Inflammasome Degrades Contractile Proteins: Implications for Aortic Biomechanical Dysfunction and Aneurysm and Dissection Formation.

Authors:  Darrell Wu; Pingping Ren; Yanqiu Zheng; Lin Zhang; Gaiping Xu; Wanmu Xie; Eric E Lloyd; Sui Zhang; Qianzi Zhang; John A Curci; Joseph S Coselli; Dianna M Milewicz; Ying H Shen; Scott A LeMaire
Journal:  Arterioscler Thromb Vasc Biol       Date:  2017-02-02       Impact factor: 8.311

Review 4.  Molecular pathogenesis of genetic and sporadic aortic aneurysms and dissections.

Authors:  Ying H Shen; Scott A LeMaire
Journal:  Curr Probl Surg       Date:  2017-02-03       Impact factor: 1.909

5.  HDAC9 complex inhibition improves smooth muscle-dependent stenotic vascular disease.

Authors:  Christian L Lino Cardenas; Chase W Kessinger; Elizabeth L Chou; Brian Ghoshhajra; Ashish S Yeri; Saumya Das; Neal L Weintraub; Rajeev Malhotra; Farouc A Jaffer; Mark E Lindsay
Journal:  JCI Insight       Date:  2019-01-24

6.  CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.

Authors:  Nina Mann; Franziska Kause; Erik K Henze; Anant Gharpure; Shirlee Shril; Dervla M Connaughton; Makiko Nakayama; Verena Klämbt; Amar J Majmundar; Chen-Han W Wu; Caroline M Kolvenbach; Rufeng Dai; Jing Chen; Amelie T van der Ven; Hadas Ityel; Madeleine J Tooley; Jameela A Kari; Lucy Bownass; Sherif El Desoky; Elisa De Franco; Mohamed Shalaby; Velibor Tasic; Stuart B Bauer; Richard S Lee; Jonathan M Beckel; Weiqun Yu; Shrikant M Mane; Richard P Lifton; Heiko Reutter; Sian Ellard; Ryan E Hibbs; Toshimitsu Kawate; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2019-11-07       Impact factor: 11.025

Review 7.  Genetics of Thoracic and Abdominal Aortic Diseases.

Authors:  Amélie Pinard; Gregory T Jones; Dianna M Milewicz
Journal:  Circ Res       Date:  2019-02-15       Impact factor: 17.367

8.  Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Authors:  Joakim Klar; Doroteya Raykova; Elisabet Gustafson; Iveta Tóthová; Adam Ameur; Alkwin Wanders; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

9.  Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

Authors:  Marjolijn Renard; Catherine Francis; Rajarshi Ghosh; Alan F Scott; P Dane Witmer; Lesley C Adès; Gregor U Andelfinger; Pauline Arnaud; Catherine Boileau; Bert L Callewaert; Dongchuan Guo; Nadine Hanna; Mark E Lindsay; Hiroko Morisaki; Takayuki Morisaki; Nicholas Pachter; Leema Robert; Lut Van Laer; Harry C Dietz; Bart L Loeys; Dianna M Milewicz; Julie De Backer
Journal:  J Am Coll Cardiol       Date:  2018-08-07       Impact factor: 24.094

10.  Cerebral arteriopathy associated with Arg179His ACTA2 mutation.

Authors:  Matthew R Amans; Charles Stout; Christine Fox; Jared Narvid; Steven W Hetts; Daniel L Cooke; Randall T Higashida; Christopher F Dowd; Hugh McSwain; Van V Halbach
Journal:  BMJ Case Rep       Date:  2013-11-29
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