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Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct

Published online by Cambridge University Press:  24 October 2007

Limin Zhu ,
Damien Bonnet ,
Magali Boussion ,
Benoît Vedie ,
Daniel Sidi  and
Xavier Jeunemaitre
Limin Zhu
Affiliation:
AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, 75015, Paris, France INSERM, Unit 772; Collège de France, Paris, France Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
Damien Bonnet
Affiliation:
AP-HP, Hôpital Necker Enfant Malades, Département de Cardiologie Pédiatrique, Paris, France Université Paris-Descartes, Faculté de Médecine, Paris, France
Magali Boussion
Affiliation:
AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, 75015, Paris, France
Benoît Vedie
Affiliation:
AP-HP, Hôpital Européen Georges Pompidou, Département de Biochimie, Paris, France
Daniel Sidi
Affiliation:
AP-HP, Hôpital Necker Enfant Malades, Département de Cardiologie Pédiatrique, Paris, France Université Paris-Descartes, Faculté de Médecine, Paris, France
Xavier Jeunemaitre*
Affiliation:
AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, 75015, Paris, France INSERM, Unit 772; Collège de France, Paris, France Université Paris-Descartes, Faculté de Médecine, Paris, France
*
Correspondence to: Xavier Jeunemaitre MD, PhD, Département de Génétique, Hôpital Européen Georges Pompidou, 20-40 rue Leblanc 75015 Paris, France. Tel: +33 1 56 09 38 81; Fax: +33 1 56 09 38 84; E-mail: [email protected]
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Abstract

Persistent patency of the arterial duct is one of the most common congenital cardiac malformations. We recently showed that mutations in the MYH11 gene result in a disease combining familial thoracic aortic aneurysm and dissection, along with patency of the arterial duct. It is also known that the smooth muscle myosin heavy chain is involved in the physiological closure of the arterial duct. With this in mind, we investigated whether the MYH11 gene was a susceptibility gene for sporadic occurrence of isolated persistent patency of the arterial duct. We sequenced the entire coding sequence of the MYH11 gene in 60 Caucasian children with persistent patency born after 36 weeks of gestation. The frequencies of rare genetic variants, and single nucleotide polymorphisms, were compared with 192 normal controls. Two possible functional missense mutations were found in two affected individuals. Another rare variant, specifically p.Arg1535Gln, and two coding polymorphisms, namely p.Ala1234Thr and p.Val1289Ala, had allele frequencies similar to those in controls. Haplotype analysis after estimating linkage disequilibrium was carried out using six polymorphisms. Individual genotypes were distributed similarly among cases and controls. Only one of the seven major haplotypes was significantly less frequent among cases, at 0.07, than among controls, when the figure was 0.22 (OR 0.23 [0.08–0.27]). Our findings suggest that the MYH11 gene is involved in only rare instances when persistent patency of the arterial duct occurs in sporadic fashion.

Keywords

Congenital heart diseasepolymorphismgeneticsmyosin
Type
Original Article
Information
Cardiology in the Young , Volume 17 , Issue 6 , December 2007 , pp. 666 - 672
Copyright
Copyright © Cambridge University Press 2007

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References

1. Mitchell, SC, Korones, SB, Berendes, HW. Congenital heart disease in 56,109 births. Incidence and natural history. Circulation 1971; 43: 323–332.Google ScholarPubMed
2. Lamy, M, De Grouchy, J, Schweisguth, O. Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. Am J Hum Genet 1957; 9: 17–41.Google ScholarPubMed
3. Polani, PE, Campbell, M. Factors in the causation of persistent arterial duct. Ann Hum Genet 1960; 24: 343–357.CrossRefGoogle Scholar
4. Satoda, M, Zhao, F, Diaz, GA, et al. . Mutations in TFAP2B cause Char syndrome, a familial form of patent arterial duct. Nat Genet 2000; 25: 42–46.CrossRefGoogle Scholar
5. Mani, A, Radhakrishnan, J, Farhi, A, et al. . Syndromic patent arterial duct: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci USA 2005; 102: 2975–2979.CrossRefGoogle ScholarPubMed
6. Gelb, BD, Zhang, J, Sommer, RJ, Wasserman, JM, Reitman, MJ, Willner, JP. Familial patent arterial duct and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. Am J Med Genet 1999; 87: 175–179.3.0.CO;2-#>CrossRefGoogle ScholarPubMed
7. Mani, A, Meraji, SM, Houshyar, R, et al. . Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent arterial duct. Proc Natl Acad Sci USA 2002; 99: 15054–15059.CrossRefGoogle Scholar
8. Glancy, DL, Wegmann, M, Dhurandhar, RW. Aortic dissection and patent arterial duct in three generations. Am J Cardiol 2001; 87: 813–815A9.CrossRefGoogle ScholarPubMed
9. Khau Van Kien, P, Wolf, JE, Mathieu, F, et al. . Familial thoracic aortic aneurysm/dissection with patent arterial duct: genetic arguments for a particular pathophysiological entity. Eur J Hum Genet 2004; 12: 173–180.CrossRefGoogle ScholarPubMed
10. Khau Van Kien, P, Mathieu, F, Zhu, L, et al. . Mapping of familial thoracic aortic aneurysm/dissection with patent arterial duct to 16p12.2-p13.13. Circulation 2005; 112: 200–206.CrossRefGoogle Scholar
11. Zhu, L, Vranckx, R, Van Kien, PK, et al. . Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent arterial duct. Nat Genet 2006; 38: 343–349.CrossRefGoogle Scholar
12. Imamura, S, Nishikawa, T, Hiratsuka, E, Takao, A, Matsuoka, R. Behavior of smooth muscle cells during arterial ductal closure at birth. J Histochem Cytochem 2000; 48: 35–44.CrossRefGoogle ScholarPubMed
13. Kim, HS, Aikawa, M, Kimura, K, et al. . Arterial duct. Advanced differentiation of smooth muscle cells demonstrated by myosin heavy chain isoform expression in rabbits. Circulation 1993; 88: 1804–1810.Google Scholar
14. Slomp, J, Gittenberger-de Groot, AC, Glukhova, MA, et al. . Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human arterial duct. Arterioscler Thromb Vasc Biol 1997; 17: 1003–1009.CrossRefGoogle Scholar
15. Lupas, A, Van Dyke, M, Stock, J. Predicting coiled coils from protein sequences. Science 1991; 252: 1162–1164.CrossRefGoogle ScholarPubMed
16. Chenna, R, Sugawara, H, Koike, T, et al. . Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res 2003; 31: 3497–3500.CrossRefGoogle ScholarPubMed
17. Tregouet, DA, Escolano, S, Tiret, L, Mallet, A, Golmard, JL. A new algorithm for haplotype-based association analysis: the Stochastic-EM algorithm. Ann Hum Genet 2004; 68: 165–177.CrossRefGoogle ScholarPubMed
18. Hebsgaard, SM, Korning, PG, Tolstrup, N, Engelbrecht, J, Rouze, P, Brunak, S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996; 24: 3439–3452.CrossRefGoogle ScholarPubMed
19. Brunak, S, Engelbrecht, J, Knudsen, S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991; 220: 49–65.CrossRefGoogle ScholarPubMed
20. Huxley, HE. The mechanism of muscular contraction. Science 1969; 164: 1356–1365.CrossRefGoogle ScholarPubMed
21. Huxley, HE. Fifty years of muscle and the sliding filament hypothesis. Eur J Biochem 2004; 271: 1403–1415.CrossRefGoogle ScholarPubMed
22. Rayment, I, Rypniewski, WR, Schmidt-Base, K, et al. . Three-dimensional structure of myosin subfragment-1: a molecular motor. Science 1993; 261: 50–58.CrossRefGoogle ScholarPubMed
23. Rayment, I, Holden, HM, Whittaker, M, et al. . Structure of the actin-myosin complex and its implications for muscle contraction. Science 1993; 261: 58–65.CrossRefGoogle ScholarPubMed
24. McLachlan, AD, Karn, J. Periodic features in the amino acid sequence of nematode myosin rod. J Mol Biol 1983; 164: 605–626.CrossRefGoogle ScholarPubMed
25. Rayment, I, Holden, HM, Sellers, JR, Fananapazir, L, Epstein, ND. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1995; 92: 3864–3868.CrossRefGoogle ScholarPubMed
26. Song, L, Zou, Y, Wang, J, et al. . Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta 2005; 351: 209–216.CrossRefGoogle ScholarPubMed
27. McLachlan, AD, Karn, J. Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle. Nature 1982; 299: 226–231.CrossRefGoogle ScholarPubMed
28. Franke, JD, Dong, F, Rickoll, WL, Kelley, MJ, Kiehart, DP. Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood 2005; 105: 161–169.CrossRefGoogle ScholarPubMed