Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 487-493

  Harakalova, Magdalena ^a   Van Der Smagt, Jasper ^a   De Kovel, Carolien G F ^a   Slot, Ruben Vant ^a   Poot, Martin ^a   Nijman, Isaac J ^a   Medic, Jelena ^a   Joziasse, Irene ^a   Deckers, Jaap ^b   Roos Hesselink, Jolien W ^b   Wessels, Marja W ^b   Baars, Hubert F ^a   Weiss, Marjan M ^c   Pals, Gerard ^c   Golmard, Lisa ^d,e   Jeunemaitre, Xavier ^d,e,f   Lindhout, Dick ^a   Cuppen, Edwin ^a   Baas, Annette F ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

Author keywords

Myosin heavy chain 11 (MYH11); Oligogenic model; Patent ductus arteriosus (PDA); Segregation analysis; Thoracic aortic aneurysm and dissection (TAAD)

Indexed keywords

MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 11; UNCLASSIFIED DRUG;

ADULT; AGED; AORTA DISSECTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE DELETION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PATENT DUCTUS ARTERIOSUS; PENETRANCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEGREGATION ANALYSIS; THORACIC AORTA ANEURYSM; THORACIC AORTIC ANEURYSM AND DISSECTION;

ADULT; AGED; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; DUCTUS ARTERIOSUS, PATENT; FEMALE; GENETIC TESTING; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; NETHERLANDS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84876672165     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.206     Document Type: Article

References (23)

1. Lilienfeld DE, Gunderson PD, Sprafka JM, Vargas C: Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981. Arteriosclerosis 1987; 7: 637-643. (Pubitemid 18005816)
2. Lindsay Jr J: Diagnosis and treatment of diseases of the aorta. Curr Probl Cardiol 1997; 22: 485-542. (Pubitemid 127703807)
3. Guo DC, Papke CL, He R, Milewicz DM: Pathogenesis of thoracic and abdominal aortic aneurysms. Ann N Y Acad Sci 2006; 1085: 339-352. (Pubitemid 47091985)
4. El-Hamamsy I, Yacoub MH: Cellular and molecular mechanisms of thoracic aortic aneurysms. Nat Rev Cardiol 2009; 6: 771-786.
5. Ince H, Nienaber CA: Etiology, pathogenesis and management of thoracic aortic aneurysm. Nat Clin Pract Cardiovasc Med 2007; 4: 418-427. (Pubitemid 47180326)
6. Lindsay ME, Dietz HC: Lessons on the pathogenesis of aneurysm from heritable conditions. Nature 2011; 473: 308-316.
7. van de Laar IM, Oldenburg RA, Pals G et al: Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 2011; 43: 121-126.
8. Albornoz G, Coady MA, Roberts M et al: Familial thoracic aortic aneurysms and dissections - incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006; 82: 1400-1405. (Pubitemid 44402354)
9. Milewicz DM, Chen H, Park ES et al: Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol 1998; 82: 474-479. (Pubitemid 28392280)
10. Wang L, Guo DC, Cao J et al: Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010; 87: 701-707.
11. Regalado ES, Guo DC, Villamizar C et al: Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011; 109: 680-686.
12. Hiratzka LF, Bakris GL, Beckman JA et al: 2010 ACCF/AHA/AATS/ACR/ASA/SCA/ SCAI/ SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons,and Society for Vascular Medicine. J Am Coll Cardiol 2010; 55: e27-e129.
13. Zhu L, Vranckx R, Khau Van Kien P et al: Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006; 38: 343-349.
14. Guo DC, Pannu H, Tran-Fadulu V et al: Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007; 39: 1488-1493. (Pubitemid 350191352)
15. Pannu H, Tran-Fadulu V, Papke CL et al: MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet 2007; 16: 2453-2462. (Pubitemid 47500631)
16. Milewicz DM, Guo DC, Tran-Fadulu V et al: Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet 2008; 9: 283-302.
17. Slomp J, Gittenberger-de Groot AC, Glukhova MA et al: Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human ductus arteriosus. Arterioscler Thromb Vasc Biol 1997; 17: 1003-1009. (Pubitemid 27209281)
18. Sheil ML, Jenkins O, Sholler GF: Echocardiographic assessment of aortic root dimensions in normal children based on measurement of a new ratio of aortic size independent of growth. Am J Cardiol 1995; 75: 711-715.
19. Prakash SK, LeMaire SA, Guo DC et al: Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet 2010; 87: 743-756.
20. Kuang SQ, Guo DC, Prakash SK et al: Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet 2011; 7: e1002118.
21. Vermeesch JR, Fiegler H, de Leeuw N et al: Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 2007; 15: 1105-1114. (Pubitemid 350011675)
22. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97-101.
23. Ng AS, Vlietstra RE, Danielson GK, Smith HC, Puga FJ: Patent dusctus arteriosus in patients more than 50 years old. Int J Cardiol 1986; 11: 277-285. (Pubitemid 16122410)