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ELN gene triplication responsible for familial supravalvular aortic aneurysm

Published online by Cambridge University Press:  17 June 2014

Anne-Sophie Guemann ,
Joris Andrieux ,
Florence Petit ,
Emmanuel Halimi ,
Sonia Bouquillon ,
Sylvie Manouvrier-Hanu ,
Jiddeke Van De Kamp ,
Catherine Boileau ,
Nadine Hanna  and
Guillaume Jondeau
...Show all authors
Anne-Sophie Guemann
Affiliation:
Department of Clinical Genetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France
Joris Andrieux
Affiliation:
Department of Cytogenetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France
Florence Petit
Affiliation:
Department of Clinical Genetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France Lille Nord de France University, France
Emmanuel Halimi
Affiliation:
Department of Clinical Genetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France
Sonia Bouquillon
Affiliation:
Department of Cytogenetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France
Sylvie Manouvrier-Hanu
Affiliation:
Department of Clinical Genetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France Lille Nord de France University, France
Jiddeke Van De Kamp
Affiliation:
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
Catherine Boileau
Affiliation:
Laboratory of Biochemistry and Molecular Genetics, Amboise Paré Hospital, Boulogne, France
Nadine Hanna
Affiliation:
InsermU745, Faculty of Pharmaceutical and Biological Sciences, University Paris Descartes, Paris, France
Guillaume Jondeau
Affiliation:
AP-HP, National Reference Centre for Marfan syndrome, Bichat Hospital, Paris, France
Guy Vaksmann
Affiliation:
Department of Cardiology, La Louvière Hospital, Lille, France
Veronique Houfflin-Debarge
Affiliation:
Lille Nord de France University, France Department of Obstetrics, Jeanne de Flandre Hospital, CHRU Lille, France
Muriel Holder-Espinasse*
Affiliation:
Department of Clinical Genetics, Lille, Jeanne de Flandre Hospital, CHRU Lille, France Lille Nord de France University, France Department of Clinical Genetics, Guy’s Hospital, London, United Kingdom
*
Correspondence to: Dr M. Holder, Consultant in Clinical Genetics, 7th Floor Borough Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT, United Kingdom. Tel: 00442071881362; Fax: 00442071881369; E-mail: [email protected]
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Abstract

Supravalvular aortic aneurysms are less frequent than abdominal ones. Among Supravalvular aortic aneurysm aetiologies, we focused on dystrophic lesions as they can be secondary to genetic causes such as elastin anomaly. We report on a familial 7q11.23 triplication – including the ELN gene – segregating with a supravalvular aortic aneurysm. During her first pregnancy, our index patient was diagnosed with tuberous sclerosis and with a Supravalvular aortic aneurysm. The foetus was affected equally. For the second pregnancy, parents applied for preimplantation diagnosis, and a subsequent prenatal diagnosis was offered to the couple, comprising TSC1 molecular analysis, karyotype, and multiplex ligation probe amplification. TSC1 mutation was not found on foetal deoxyribo nucleic acid. Foetal karyotype was normal, but multiplex ligation probe amplification detected a 7q11.23 duplication. Quantitative-polymerase chain reaction and array-comparative genomic hybridisation carried out to further assess this chromosome imbalance subsequently identified a 7q11.23 triplication involving ELN and LIMK1. Foetal heart ultrasound identified a Supravalvular aortic aneurysm. A familial screening was offered for the 7q11.23 triplication and, when found, heart ultrasound was performed. The triplication was diagnosed in our index case as well as in her first child. Of the 17 individuals from this family, 11 have the triplication. Of the 11 individuals with the triplication, 10 were identified to have a supravalvular aortic aneurysm. Of them, two individuals received a medical treatment and one individual needed surgery. We provide evidence of supravalvular aortic aneurysm segregating with 7q11.23 triplication in this family. We would therefore recommend cardiac surveillance for individuals with 7q11.23 triplication. It would also be interesting to offer a quantitative-polymerase chain reaction or an array-comparative genomic hybridisation to a larger cohort of patients presenting with isolated supravalvular aortic aneurysm, as it may provide further information.

Keywords

7q11.23 triplicationELNsupravalvular aortic aneurysm
Type
Original Articles
Information
Cardiology in the Young , Volume 25 , Issue 4 , April 2015 , pp. 712 - 717
Copyright
© Cambridge University Press 2014 

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References

1. Ailawadi, G, Eliason, JL, Upchurch, GR Jr. Current concepts in the pathogenesis of abdominal aortic aneurysm. J Vasc Surg 2003; 38: 584–588.Google Scholar
2. Roudaut, R, Laurent, F, Labrousse, L. Anévrismes de l’aorte thoracique. EMC – Cardiologie 2012; 7: 1–21.Google Scholar
3. Arteaga-Solis, E, Gayraud, B, Ramirez, F. Elastic and collagenous networks in vascular diseases. Cell Struct Funct 2000; 25: 69–72.Google Scholar
4. Callewaert, B, Renard, M, Hucthagowder, V, et al. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat 2011; 32: 445–455.Google Scholar
5. Szabo, Z, Crepeau, MW, Mitchell, AL, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet 2006; 43: 255–258.Google Scholar
6. Bashir, MM, Indik, Z, Yeh, H, et al. Characterization of the complete human elastin gene. Delineation of unusual features in the 5’-flanking region. J Biol Chem 1989; 264: 8887–8891.Google Scholar
7. Jakob, A, Unger, S, Arnold, R, et al. A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young 2011; 21: 62–65.Google Scholar
8. Micale, L, Turturo, MG, Fusco, C, et al. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet 2010; 18: 317–323.Google Scholar
9. Merla, G, Brunetti-Pierri, N, Micale, L, Fusco, C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Gene 2010; 128: 3–26.Google Scholar
10. Rodriguez-Revenga, L, Badenas, C, Carrió, A, et al. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol 2005; 26: 827–831.Google Scholar
11. Beunders, G, van de Kamp, JM, Veenhoven, RH, et al. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. J Med Genet 2010; 47: 271–275.Google Scholar
12. Merla, G, Brunetti-Pierri, N, Piccolo, P, et al. Supravalvular aortic stenosis: elastin arteriopathy. Circ Cardiovasc Genet 2012; 5: 692–696.CrossRefGoogle ScholarPubMed
13. Mosca-Boidron, AL, Bouquillon, S, Faivre, L, et al. What can we learn from old microdeletion syndromes using array-CGH screening? Clin Genet 2012; 82: 41–47.Google Scholar
14. 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.Google Scholar
15. 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.Google Scholar
16. Freycon, F, Mollard, P, Hermier, M, et al. Abdominal aorta aneurysm during Bourneville’s tuberous sclerosis. Pediatrie 1971; 26: 421–427.Google ScholarPubMed
17. Hagood, CO Jr, Garvin, DD, Lachina, FM, et al. Abdominal aortic aneurysm and renal hamartoma in an infant with tuberous sclerosis. Surgery 1976; 79: 713–715.Google Scholar
18. Patiño Bahena, E, Calderón-Colmenero, J, Buendía, A, et al. Giant aortic aneurysm and rhabdomyomas in infant with tuberous sclerosis (case report). Arch Cardiol Mex 2005; 75: 448–450.Google ScholarPubMed
19. Shepherd, CW, Gomez, MR, Lie, JT, et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792–796.CrossRefGoogle ScholarPubMed
20. Tamisier, D, Goutière, F, Sidi, D, et al. Abdominal aortic aneurysm in a child with tuberous sclerosis. Ann Vasc Surg 1997; 11: 637–639.Google Scholar
21. Pham, PP, Moller, JH, Hills, C, et al. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol 2009; 30: 9–14.Google Scholar
22. Wessel, A, Pankau, R, Kececioglu, D, et al. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet 1994; 52: 297–301.Google Scholar
23. Scott, RW, Olson, MF. LIM kinases: function, regulation and association with human disease. J Mol Med 2007; 85: 555–568.CrossRefGoogle ScholarPubMed
24. Côté, MC, Lavoie, JR, Houle, F, et al. Regulation of vascular endothelial growth factor-induced endothelial cell migration by LIM kinase 1-mediated phosphorylation of annexin 1. J Biol Chem 2010; 285: 8013–8021.Google Scholar
25. Matsumoto, N, Kitani, R, Kalinec, F. Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome. Commun Integr Biol 2011; 4: 208–210.Google Scholar