Eur J Hum Genet. 2003 Sep;11(9):639-42.

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).

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Genetic Health Services Victoria, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Victoria, Australia.

Abstract

Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies. Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region. The function of the SEDL protein is not known although it is speculated that it may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex.

PMID:: 12939648; [PubMed - indexed for MEDLINE]

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A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. [Clin Chim Acta. 2009]
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT. Clin Chim Acta. 2009 Dec; 410(1-2):39-42. Epub 2009 Sep 19.
[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing]. [Zhonghua Er Ke Za Zhi. 2003]
[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].
Wang HL, Gao C, Luo Q, Sheng GY, Zhou JH, Gao TZ, Peng S, Lu JP. Zhonghua Er Ke Za Zhi. 2003 Apr; 41(4):256-9.
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. [Am J Hum Genet. 2001]
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gecz J. Am J Hum Genet. 2001 Jun; 68(6):1398-407. Epub 2001 Apr 26.
Review Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. [Clin Genet. 2003]
Review Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, Salerno M, Gécz J. Clin Genet. 2003 Sep; 64(3):235-42.
Review Cartilage disorders. The importance of being sulphated. [Curr Biol. 1995]
Review Cartilage disorders. The importance of being sulphated.
Wallis GA. Curr Biol. 1995 Mar 1; 5(3):225-7.

See reviews... See all...

Cited by 2 PubMed Central articles

The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. [PLoS One. 2011]
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S. PLoS One. 2011; 6(8):e23350. Epub 2011 Aug 15.
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda. [Eur J Hum Genet. 2009]
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, Chang H, Xie J, Zheng H, Li T, et al. Eur J Hum Genet. 2009 Apr; 17(4):510-6. Epub 2008 Nov 12.

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Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Eur J Hum Genet. 2003 Sep ;11(9):639-42.

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