Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Kappanayil, Mahesh ^a   Nampoothiri, Sheela ^a   Kannan, Rajesh ^a   Renard, Marjolijn ^b   Coucke, Paul ^b   Malfait, Fransiska ^b   Menon, Swapna ^c   Ravindran, Hiran K ^a   Kurup, Renu ^d   Faiyaz Ul Haque, Muhammad ^e   Kumar, Krishna ^a   De Paepe, Anne ^b  

^a AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^b GHENT UNIVERSITY   (Belgium)

^c SCIGENOM LABS PVT LTD   (India)

^d MALABAR INSTITUTE OF MEDICAL SCIENCES   (India)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

Abnormal elastogenesis; Aortic aneurysm; Arterial tortuosity; Cardiovascular imaging; Connective tissue disorder; Fibulin 4 mutation; Founder effect; Genetic vasculopathy; Lethal mutation; Malabar; Mappila muslims; Vascular elasticity

Indexed keywords

DIGOXIN; DIURETIC AGENT; FIBULIN; FIBULIN 4; FUROSEMIDE; LOSARTAN; PROPRANOLOL; UNCLASSIFIED DRUG;

ARTERY DILATATION; ARTERY DISEASE; ARTICLE; BLOOD VESSEL RUPTURE; CLINICAL ARTICLE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CUTIS LAXA; DIET SUPPLEMENTATION; ETHNOGRAPHY; EXON; FEMALE; FETUS ECHOGRAPHY; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HYPERTELORISM; INFANT; LETHAL ARTERIOPATHY SYNDROME; MALE; MICROGNATHIA; MOLECULAR GENETICS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSIOTHERAPY; PULSE WAVE; RESPIRATORY CARE; THORAX RADIOGRAPHY;

AORTIC ANEURYSM; ELASTIC TISSUE; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; VASCULAR DISEASES;

EID: 84865602529     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-61     Document Type: Article

References (38)

1. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 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, Nat Genet 2006 38 4 452 457 10.1038/ng1764 16550171
2. Xu Fl, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Nat Genet 2005 37 3 275 281 10.1038/ng1511 15731757 (Pubitemid 41716254)
3. Four sibs with arterial tortuosity: description and review of the literature. Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, Brunson S, Tafreshi P, Kahn E, Am J Med Genet 1996 66 2 121 128 10.1002/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U 8958317
4. Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome? Al Fadley F, Al Manea W, Nykanen DG, Al Fadley A, Bulbul Z, Al Halees Z, Cardiol Young 2000 10 6 582 589 11117390
5. Three new families with arterial tortuosity syndrome. Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ, Am J Med Genet A 2004 131 2 134 143 15529317 (Pubitemid 39578344)
6. Aneurysm syndromes caused by mutations in the TGF-beta receptor. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC, N Engl J Med 2006 355 8 788 798 10.1056/NEJMoa055695 16928994 (Pubitemid 44285584)
7. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 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, Hum Mutat 2008 29 1 150 158 10.1002/humu.20623 17935213
8. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A, Hum Mol Genet 2002 11 18 2113 2118 10.1093/hmg/11.18.2113 12189163 (Pubitemid 34993999)
9. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z, Am J Hum Genet 2006 78 6 1075 1080 10.1086/504304 16685658 (Pubitemid 43787699)
10. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Ul Haque MF, Teebi AS, Acta Paediatr 2003 92 4 456 462 12801113 (Pubitemid 37088475)
11. Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood. Beuren AJ, Hort W, Kalbfleisch H, Müller H, Stoermer J, Circulation 1969 39 1 109 115 10.1161/01.CIR.39.1.109 5762119
12. Diffuse tortuosity and lengthening of the arteries. Ertugrul A, Circulation 1967 36 3 400 407 10.1161/01.CIR.36.3.400 6033167
13. Arterial tortuosity syndrome. Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D, Am J Med Genet 2000 91 2 141 143 10.1002/(SICI)1096- 8628(20000313)91:2<141::AID-AJMG13>3.0.CO;2-6 10748415 (Pubitemid 30133653)
14. Exclusion of candidate genes in a family with arterial tortuosity syndrome. Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M, Am J Med Genet A 2004 126A 3 221 228 10.1002/ajmg.a.20589 15054833 (Pubitemid 38420631)
15. Arterial tortuosity syndrome. Meyer S, Faiyaz-Ul-Haque M, Zankl M, Sailer NL, Marx N, Limbach HG, Lindinger A, Klin Padiatr 2005 217 1 36 40 10.1055/s-2004-822635 15640971 (Pubitemid 40188876)
16. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Zaidi SHE, Peltekova V, Meyer S, Lindinger A, Paterson AD, Tsui LC, Faiyaz-Ul-Haque M, Teebi AS, Clin Genet 2005 67 2 183 188 15679832 (Pubitemid 40287527)
17. New insights into elastic fiber assembly. Wagenseil JE, Mecham RP, Birth Defects Res C Embryo Today 2007 81 4 229 240 10.1002/bdrc.20111 18228265 (Pubitemid 351186172)
18. Elastin. Mithieux SM, Weiss AS, Adv Protein Chem 2005 70 437 461 15837523 (Pubitemid 40544790)
19. Connective tissue and its heritable disorders. Royce PM, Steinmann BU, John Wiley and Sons 2002 1201
20. Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts. Chen Q, Zhang T, Roshetsky JF, Ouyang Z, Essers J, Fan C, Wang Q, Hinek A, Plow EF, Dicorleto PE, Biochem J 2009 423 1 79 89 10.1042/BJ20090993 19627254
21. Differential regulation of elastic fiber formation by fibulins-4 and-5. Choudhary R, McGovern A, Ridley C, Cain SA, Baldwin A, Wang MC, Guo C, Mironov A, Drymoussi Z, Trump D, Shuttleworth A, Baldock C, Kielty CM, J Biochem 2009 284 36 24553 24567
22. Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Hanada K, Vermeij M, Garinis GA, de Waard MC, Kunen MG, Myers L, Maas A, Duncker DJ, Meijers C, Dietz HC, Kanaar R, Essers J, Circ Res 2007 100 5 738 746 10.1161/01.RES.0000260181.19449.95 17293478 (Pubitemid 46594889)
23. Images in cardiovascular medicine. Satish G, Nampoothiri S, Kappanayil M, Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. Circulation 2008 117 23 477 e478
24. Fibulins: a versatile family of extracellular matrix proteins. Timpl R, Sasaki T, Kostka G, Chu ML, Nat Rev Mol Cell Biol 2003 4 6 479 489 10.1038/nrm1130 12778127 (Pubitemid 36648593)
25. Fibulins: physiological and disease perspectives. Argraves WS, Greene LM, Cooley MA, Gallagher WM, EMBO Rep 2003 4 12 1127 1131 10.1038/sj.embor.7400033 14647206 (Pubitemid 38088406)
26. A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. Kobayashi N, Kostka G, Garbe JH, Keene DR, Bächinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, Sasaki T, J Biol Chem 2007 282 16 11805 11816 17324935 (Pubitemid 47100695)
27. Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. McLaughlin PJ, Chen Q, Horiguchi M, Starcher BC, Stanton JB, Broekelmann TJ, Marmorstein AD, McKay B, Mecham R, Nakamura T, Marmorstein LY, Mol Cell Biol 2006 26 5 1700 1709 10.1128/MCB.26.5.1700-1709. 2006 16478991
28. Fibulin-5/DANCE is essential for elastogenesis in vivo. Nakamura T, Lozano PR, Ikeda Y, Iwanaga Y, Hinek A, Minamisawa S, Cheng CF, Kobuke K, Dalton N, Takada Y, Tashiro K, Ross J, Honjo T, Chien KR, Nature 2002 415 6868 171 10.1038/415171a 11805835 (Pubitemid 34059518)
29. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML, Am J Med Genet A 2007 143A 22 2635 2641 10.1002/ajmg.a.31980 17937443 (Pubitemid 350076765)
30. Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A, Clin Genet 2009 76 3 276 281 10.1111/j.1399-0004.2009.01204.x 19664000
31. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Renard M, Holm T, Veith R, Vallewaert BL, Ades LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL, Eur J Hum Genet. 2010 18 8 895 901 10.1038/ejhg.2010.45 20389311
32. Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. Huang J, Davis EC, Chapman SL, Budatha M, Marmorstein LY, Word RA, Yanagisawa H, Circ Res. 2010 106 3 583 592 10.1161/CIRCRESAHA.109.207852 20019329
33. Government of India, Ministry of Home Affairs, [http://www.censusindia. gov.in/]
34. Genesis and growth of the Mappila community, [http://www.jaihoon.com]
35. The elastic fiber. Ross R, Bornstein P, I. The separation and partial characterization of its macromolecular components. J Cell Biol 1969 40 2 366 381
36. Dilatation of the ascending aorta in paediatric patients with bicuspid aortic valve: frequency, rate of progression and risk factors. Warren AE, Boyd ML, O'Connell C, Dodds L, Heart 2006 92 10 1496 1500 10.1136/hrt.2005.081539 16547208 (Pubitemid 44578852)
37. Regression equations for calculation of z scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study. Pettersen MD, Du W, Skeens ME, Humes RA, J Am Soc Echocardiogr 2008 21 8 922 934 10.1016/j.echo.2008.02.006 18406572
38. Pediatric and Fetal Echo Z-Score Calculators, [http://parameterz. blogspot.com]