Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda|
|Citation:||Nature Genetics, 1999; 22(4):400-404|
|Publisher:||Nature Publishing Group|
|Ági K. Gedeon, Alison Colley, Robyn Jamieson, Elizabeth M. Thompson, John Rogers, David Sillence, George E. Tiller, John C. Mulley & Jozef Gécz|
|Abstract:||Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive osteochondrodysplasia that occurs in approximately two of every one million people. This progressive skeletal disorder which manifests in childhood is characterized by disproportionate short stature with short neck and trunk, barrel chest and absence of systemic complications. Distinctive radiological signs are platyspondyly with hump-shaped central and posterior portions, narrow disc spaces, and mild to moderate epiphyseal dysplasia. The latter usually leads to premature secondary osteoarthritis often requiring hip arthroplasty. Obligate female carriers are generally clinically and radiographically indistinguishable from the general population, although some cases have phenotypic changes consistent with expression of the gene defect. The SEDL gene has been localized to Xp22 (refs 8,9) in the approximately 2-Mb interval between DXS16 and DXS987 (ref. 10). Here we confirm and refine this localization to an interval of less than 170 kb by critical recombination events at DXS16 and AFMa124wc1 in two families. In one candidate gene we detected three dinucleotide deletions in three Australian families which effect frameshifts causing premature stop codons. The gene designated SEDL is transcribed as a 2.8-kb transcript in many tissues including fetal cartilage. SEDL encodes a 140 amino acid protein with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport.|
|Keywords:||X Chromosome; Humans; Osteochondrodysplasias; Carrier Proteins; Membrane Transport Proteins; Transcription Factors; Pedigree; Amino Acid Sequence; Base Sequence; Sequence Homology, Amino Acid; Tissue Distribution; Heterozygote; Mutation; Molecular Sequence Data; Adolescent; Adult; Middle Aged; Female; Male; Genetic Linkage|
|Rights:||© 1999 Nature America Inc.|
|Appears in Collections:||Genetics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.