279
Views
9
CrossRef citations to date
0
Altmetric
Original Article

X-linked spondyloepiphyseal dysplasia tarda
Molecular cause of a heritable disorder associated with early degenerative joint disease

, &
Pages 737-741 | Published online: 08 Jul 2009

References

  • Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop G M, Julier C. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wol-cott-Rallison syndrome. Nat Genet 2000; 25 (4): 406–9.
  • Gecz J, Hillman M A, Gedeon A K, Cox T C, Baker E, Mulley J C. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics 2000; 69(2): 242–51.
  • Gedeon A K, Colley A, Jamieson R, Thompson EM, Rogers J, Silence D, Tiller GE, Mulley J C, Gecz J. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 1999; 22 (4): 400–4.
  • Gedeon AK, Tiller G E, Le Merrer M, Heuertz S, Traneb-jaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole W G, Rimoin D L, Kousseff B G, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley J C. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet 2001; 68 (6): 1386–97.
  • Grunebaum E, Arpaia E, MacKenzie J J, Fitzpatrick J, Ray P N, Roifman C M. A missense mutation in the SEDL gene results in delayed onset of X-linked spondyloepiphyseal dysplasia in a large pedigree. J Med Genet 2001; 38 (6): 409–11.
  • Iceton J A, Horne G. Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers. J Bone Joint Surg (Br) 1986; 68 (4): 616–9.
  • MacKenzie J J, Fitzpatrick J, Babyn P, Ferrero G B, Balla-bio A, Billingsley G, Bulman D E, Strasberg P, Ray P N, Costa T. X-linked spondyloepiphyseal dysplasia: a clini-cal, radiological, and molecular study of a large kindred. J Med Genet 1996; 33(10): 823–8.
  • Mumm S, Christie P T, Finnegan P, Jones J, Dixon P H, Pannett A A, Harding B, Gottesman G S, Thakker R V, Whyte M P. A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-gen-eration Arkansas kindred. J Clin Endocrinol Metab 2000; 85 (9): 3343–7.
  • Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte M P. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene 2001; 273 (2): 285–93.
  • Spranger J, Winterpacht A, Zabel B. The type II collagenop-athies: a spectrum of chondrodysplasias. Eur J Pediatr 1994; 153 (2): 56–65.
  • Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frezal J, Maroteaux P, Hors-Cayla M C. Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet 1988; 81(1): 61–3.
  • Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman R S, Cohn D H, Rimoin DL, Eyre DR. Dominant mutations in the type II collagen gene, COL2A1, produce spondy-loepimetaphyseal dysplasia, Strudwick type. Nat Genet 1995; 11(1): 87–9.
  • Tiller GE, Hannig V L, Dozier D, Carrel L, Trevarthen K C, Wilcox W R, Mundlos S, Haines J L, Gedeon AK, Gecz J. A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet 2001; 68 (6): 1398–1407.
  • ul Hague M F, King L M, Krakow D, Cantor R M, Rusiniak M E, Swank R T, Superti-Furga A, Hague S, Abbas H, Ahmad W, Ahmad M, Cohn D H. Mutations in ortholo-gous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet 1998; 20 (2): 157–62.
  • Whyte M P, Gottesman G S, Eddy M C, McAlister W H. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kin-dred and review of the literature. Medicine (Baltimore) 1999; 78 (1): 9–25.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.