Genetic and molecular aspects of acromelic dysplasia

Pediatric Endocrinology Reviews

Volumn 6, Issue 3, 2009, Pages 418-423

  Le Goff, Carine ^a   Cormier Daire, Valerie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Acromelic dysplasia endochondral ossification; ADAMTS; Extracellular matrix; Geleophysic dysplasia; Weill marchesani syndrome

Indexed keywords

ADAMTS PROTEIN; ADAMTS10 PROTEIN; ADAMTSL2 PROTEIN; FIBRILLIN 1; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 1; METALLOPROTEINASE; UNCLASSIFIED DRUG;

ACROMELIC DYSPLASIA; ACROMICRIC DYSPLASIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE AGE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; EPIPHYSIS DISEASE; GELEOPHYSIC DYSPLASIA; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HAND MALFORMATION; HEART DISEASE; HEPATOMEGALY; HUMAN; JOINT STIFFNESS; LENS DISEASE; LIMB MALFORMATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PROTEIN ANALYSIS; PROTEIN FUNCTION; SHORT STATURE; SKIN DEFECT; WEILL MARCHESANI SYNDROME;

ABNORMALITIES, MULTIPLE; ADAM PROTEINS; BONE AND BONES; GENETIC VARIATION; HAND DEFORMITIES, CONGENITAL; HUMANS; MICROFILAMENT PROTEINS;

EID: 65549148588     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Weill G. Ectopie du cristailin et malformations générales. Ann Occul 1932;169:21-44
2. Marchesani O. Brachydaktylie und angerobene kugellines als systemerkrnakung. Klin Mibl Augenheilk 1939;103:392-406
3. Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, LE Merrer M, Munnich A, Cormier-Daire. Clinical homogneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet 2003a;123:204-207
4. Spranger J.W, Gilbert EF, Tuffli GA, Rossiter FP, Opitz JM. Geleophysic dwarfism: a 'focal' mucopolysaccharidosis? Lancet 1971;1:97-98
5. Maroteaux P, Stanescu R, Stanescu V, Rappaport R. Acromicric dysplasias. Am J Med Genet 1986;24:447-449
6. Faivre L, LE Merrer M, 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. Acromicric dysplasias: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001;38:745-749
7. Faivre L, Megarbane A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier AB, Bacq, D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Hum Genet 2002;110:366-370
8. Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbarne A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. ADAMTS 10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004;75:801-806
9. Faivre L, Gorlin RJ, Wirtz MW, Godfrey M, Dagoneau N, Samples JR, LE Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In-frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 2003b;240:34-35
10. Le Goff C, Morice-Picard F, Dagoneau N, Wang L, Perot Claire, J Crow Yanick, Bauer Florence, Flori Elisabeth, Prost-Squarcioni Catherine, Krakow Deborah, Bonnet Damien, Merrer Martine LE, Suneel S, Apte Arnold Munnich, Valérie Cormier-Daire. ADAMTSL2 mutations in geleophysic dysplasia reveal a role for ADAMTS-like proteins in the regulation of TGFβ bioavailabiiity. Nat Genet 2008;49:1119-1123
11. Sommerville RT, Jungers KA, Apte SS. Discovery and characterization of a novel widely expressed metalloprotease, ADAMTS10, and its proteolytic activity. Journ of Bioch and Mol Biol 2004;279:51208-51217
12. Apte S. A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. Intern J of Biochem Cell Biol 2004;36:981-985
13. Kuno K, Kanada N, Nakashima E, Fujiki F, Ichimura F, Matsushima K. Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene. J Biol Chem 1997;272:556-562
14. Kokame K, Matsumoto M, Sojima K, Yagi H, Ishizashi H, Funato M, Tamai H, Koo M, Kamide K, Kawano Y, Miyata T, Fujimura Y. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor cleaving protease activity. PNAS 2002;99:11902-11907
15. Colige A, Sieron AL, LI SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers P, Lapiere CM, Prockop D, Nusgens BV. Human Ehlers-Danlos syndrome type VIIc and bovine dermatoparasis are caused by mutaions in the procollagen I N proteinase gene. Am J Hum Genet 1999;65:308-317
16. Stanton H, Rogersoon FM, East CJ, Golub SB, Lawlor KE, Meeker CT, Little CB, Last K, Farmer PJ, Campbell IK, Fourie AM, Fosang AJ. ADAMTS5 is the major aggreganase in mouse cartilage in vivo and in vitro. Nature 2005;434:648-652
17. Hasaimoto G, Shimoda M, Okada Y. Adamts4 (aggrecanase-1) interaction with the C-terminal domain of fibronectin inhibits proteotysis of aggrecan. J Biol Chem 2004;279:32483-32491
18. Matthews RT, Gary, SC, Zerillo C, Pratta M, Solomon K, Arner EC, Hockfield S. Brain-enriched hyaluronan binding (BEHAB)/brevican cleavage in a glioma cell line is mediated by a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) family member. J Biol Chem 2000;275:22695-22703
19. Sandy JD, Verscharen C. Analysis of aggregan in human knee cartilage and synovial indicates that aggreganase (ADAMTS) activity is responsible for the catabolic turnover and loss of whole aggregan whereas other protease activity is required for C-terminal processing in vivo. Biochem J 2001;358:615-626
20. Somerville RP, Longpre JM, Jungers KA, Engle JM, Ross M, Evanko S, Wight TN, Leduc R, Apte SS. Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. J Biol Chem 2003;278:9503-9513
21. Liu CJ, Kong W, Ilalov K, Yu S, Xu K, Prazak L, Fajardo M, Sehgal B; DI Cesare PE. ADAMTS-7: a metalloproteinase that directly binds to and degrades cartilage oligomeric matrix protein. Faseb J 2006a;20:988-990
22. Liu CJ, Kong W, Xu K, Luan Y, Ilalov K, Sehgal B, Yu S, Howell RD, DI Cesare PE. ADAMTS-12 associates with and degrades cartilage oligomeric matrix protein. J Biol Chem, 2006b;281:15800-15808
23. Hirohata S, Wang LW, Miyagi M, Yan L, Seldin MF, Keene DR, Crabb JW, Apte SS. Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix. J Biol Chem 2002;277:12182-12189
24. Hall NG, Klenotic P, Anand-Apte B, Apte SS. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. Matrix Biol 2003;22:501-510
25. Koo BH, LE Goff C, Jungers KA, Vasanji A, O'flaherty J, Weyman CM, Apte SS. ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. Matrix Biol 2007;26:431-441
26. Kramerova IA, Kawaguchi N, Fessier LI, Nelson RE, Chen Y, Kramerova A, Kusche-Gullberg M, Kramer JM, Ackley BD, Sieron AL, Prockop DJ, Fessler JH. Papilin in development; a pericellular protein with ahomology to the ADAMTS metalloproteinases. Development 2000;127:5475-5485
27. Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, Charbonneau NL, Reinhardt DP, Rifkin DB, SAKAI LY. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 2003;278:2750-2757
28. Charbonneau NL, Ono RN, Corson GM, Keene DR, Sakai LY. Fine tuning of growth factor signals depends on fibrillin microfibril networks. Birth Defects Res C Embryo Today 2004;72:37-50
29. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DD, De Paepe AM, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-281
30. Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 2000;26:19-20
31. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayra UD B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-411