Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2305-2310

  Cecchi, Alana ^a   Ogawa, Naomi ^a   Martinez, Hugo R ^b   Carlson, Alicia ^a   Fan, Yuxin ^c   Penny, Daniel J ^c   Guo, Dong Chuan ^a   Eisenberg, Steven ^a   Safi, Hazim ^a   Estrera, Anthony ^a   Lewis, Richard A ^c   Meyers, Deborah ^a   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Acromicric dysplasia; Aortic aneurysm; Aortic dissection; Ectopia lentis; Geleophysic dysplasia

Indexed keywords

ADULT; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; ECTOPIA LENTIS; ELBOW DISEASE; EXON; FBN1 GENE; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; JOINT CONTRACTURE; LEG DISEASE; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATOR GENE; PRIORITY JOURNAL; SHORT STATURE; SKIN DISEASE; THORACIC AORTA; WEILL MARCHESANI SYNDROME;

ACROMICRIC DYSPLASIA; AORTIC ANEURYSM; AORTIC DISSECTION; ECTOPIA LENTIS; GELEOPHYSIC DYSPLASIA;

ADULT; AORTIC ANEURYSM, THORACIC; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; WEILL-MARCHESANI SYNDROME;

EID: 84881665894     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36044     Document Type: Article

References (21)

1. Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. 2004. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet Part A 126A:284-289.
2. Bowers D. 1959. Marfan's syndrome and the Weill-Marchesani syndrome in the S. family. Ann Intern Med 51:1049-1070.
3. Dagoneau N, oist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. 2004. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 75:801-806.
4. Evereklioglu C, Hepsen IF, Hamdi ER. 1999. Weill-Marchesani syndrome in three generations. Eye (Lond) 13(Pt 6):773-777.
5. Faivre L, Le MM, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. 2001. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 38:745-749.
6. Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le MM, Munnich, A, Cormier-Daire V. 2003a. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet Part A 123A:204-207.
7. Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. 2003b. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 40:34-36.
8. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, rslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De BJ, Coucke P, Francke U, De PA, Jondeau, G, Boileau C. 2007. Effect of mutation type and location on clinical outcome in 1, 013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study. Am J Hum Genet 81:454-466.
9. Ferrier S, Nussle D, Friedli B, Ferrier PE. 1980. Marchesani's syndrome (spherophakia-brachymorphism). Helv Paediatr Acta 35:185-198.
10. Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. 1995. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91:728-733.
11. Kojuri J, Razeghinejad MR, Aslani A. 2007. Cardiac findings in Weill-Marchesani syndrome. Am J Med Genet Part A 143A:2062-2064.
12. Kutz WE, Wang LW, Bader HL, Majors AK, Iwata K, Traboulsi EI, Sakai LY, Keene DR, Apte SS. 2011. ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J Biol Chem 286:17156-17167.
13. Le GC, Cormier-Daire V. 2012. From tall to short: the role of TGFbeta signaling in growth and its disorders. Am J Med Genet Part C 160C:145-153.
14. Le GC, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le MM, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. 2011. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 89:7-14.
15. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De BJ, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. 2010. The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476-485.
16. Maroteaux P, Stanescu R, Stanescu V, Rappaport R. 1986. Acromicric dysplasia. Am J Med Genet 24:447-459.
17. Maumenee IH. 1981. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 79:684-733.
18. Megarbane A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. 2000. Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Clin Genet 58:473-478.
19. Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. 1996. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 94:2708-2711.
20. Pyeritz RE. 2000. The Marfan syndrome. Annu Rev Med 51:481-510.
21. van de Woestijne PC, rk-Jan Ten HA, Bogers AJ. 2004. Two patients with Weill-Marchesani syndrome and mitral stenosis. Interact Cardiovasc Thorac Surg 3:484-485.