ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1376-1380

  Meuwissen, Marije E C ^a   Lequin, Maarten H ^a   Bindels de Heus, Karen ^a   Bruggenwirth, Hennie T ^a   Knapen, Maarten F C M ^a   Dalinghaus, Michiel ^a   de Coo, René ^a   van Bever, Yolande ^a   Winkelman, Beerend H J ^b   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

Author keywords

Cerebrovascular disorders; Frontal lobe; Patent ductus arteriosus; Pulmonary hypertension; Smooth muscle cells

Indexed keywords

ARGININE; CYSTEINE; ACTA2 PROTEIN, HUMAN; ACTIN;

ACTA2 GENE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN MALFORMATION; CARDIOVASCULAR DISEASE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; FEMALE; FETUS ECHOGRAPHY; FETUS ELECTROCARDIOGRAPHY; GENE; GENE MUTATION; HUMAN; HYDRONEPHROSIS; HYPOTONIC BLADDER; INTESTINE MALROTATION; MYDRIASIS; NEUROLOGIC EXAMINATION; PATENT DUCTUS ARTERIOSUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; VASCULAR FRAGILITY; WHITE MATTER LESION; AORTIC ANEURYSM, THORACIC; CEREBROVASCULAR DISEASE; CORPUS CALLOSUM; DIGESTIVE SYSTEM MALFORMATION; DUCTUS ARTERIOSUS, PATENT; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HETEROZYGOTE; INTESTINE VOLVULUS; MISSENSE MUTATION; PATHOLOGY; PHENOTYPE; RADIOGRAPHY; RETINA BLOOD VESSEL;

ACTINS; AMINO ACID SUBSTITUTION; AORTIC ANEURYSM, THORACIC; CEREBROVASCULAR DISORDERS; CHILD, PRESCHOOL; CORPUS CALLOSUM; DIGESTIVE SYSTEM ABNORMALITIES; DUCTUS ARTERIOSUS, PATENT; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERTENSION, PULMONARY; INTESTINAL VOLVULUS; MUTATION, MISSENSE; MYDRIASIS; PHENOTYPE; RETINAL VESSELS;

EID: 84878248415     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35858     Document Type: Article

References (24)

1. Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. 2006. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 43:490-495.
2. Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. 2008. Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families. Hum Mutat 29:150-158.
3. Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. 2006. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 38:452-457.
4. de Wit MC, de Coo IF, Lequin MH, Halley DJ, Roos-Hesselink JW, Mancini GM. 2011a. Combined cardiological and neurological abnormalities due to filamin A gene mutation. Clin Res Cardiol 100:45-50.
5. de Wit MC, Tiddens HA, de Coo IF, Mancini GM. 2011b. Lung disease in FLNA mutation: Confirmatory report. Eur J Med Genet 54:299-300.
6. Fletcher DA, Mullins RD. 2010. Cell mechanics and the cytoskeleton. Nature 463:485-492.
7. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW. 2006. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489-1496.
8. Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. 2007. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39:1488-1493.
9. Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM. 2009. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 84:617-627.
10. Hoffjan S, Waldmuller S, Blankenfeldt W, Kotting J, Gehle P, Binner P, Epplen JT, Scheffold T. 2011. Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. Eur J Hum Genet 19:520-524.
11. Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M, Loren DJ. 2010. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. Am J Surg Pathol 34:1528-1543.
12. Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Sole G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. 2010. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. Eur J Med Genet 54:25-28.
13. Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. 2010. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 152A:2437-2443.
14. Moller HA, Fledelius HC, Milewicz DM, Regalado ES, Ostergaard JR. 2012. Eye features in three Danish patients with multisystem smooth muscle dysfunction syndrome. Br J Ophthalmol 96:1227-1231.
15. Moosa AN, Traboulsi EI, Reid J, Prieto L, Moran R, Friedman NR. 2012. Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. J Child Neurol.
16. Munot P, Saunders DE, Milewicz DM, Regalado ES, Ostergaard JR, Braun KP, Kerr T, Lichtenbelt KD, Philip S, Rittey C, Jacques TS, Cox TC, Ganesan V. 2012. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain 135:2506-2514.
17. Nakamura F, Stossel TP, Hartwig JH. 2011. The filamins: Organizers of cell structure and function. Cell Adh Migr 5:160-169.
18. Pawlisz AS, Feng Y. 2011. Three-dimensional regulation of radial glial functions by Lis1-Nde1 and dystrophin glycoprotein complexes. PLoS Biol 9:e1001172.
19. Richer J, Milewicz DM, Gow R, de Nanassy J, Maharajh G, Miller E, Oppenheimer L, Weiler G, O'Connor M. 2012. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. Am J Med Genet A 158A:664-668.
20. Riviere JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. 2012. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 44:440-444; S1-2.
21. Robinson R. 2011. Loss of microtubule-to-actin linkage disrupts cortical development. PLoS Biol 9:e1001175.
22. van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P. 2006. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 59:504-511.
23. Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM. 2012. COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 20:844-851.
24. Zhou AX, Hartwig JH, Akyurek LM. 2010. Filamins in cell signaling, transcription and organ development. Trends Cell Biol 20:113-123.