Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Nature Genetics

Volumn 22, Issue 4, 1999, Pages 400-404

  Gedeon, Ági K ^a   Colley, Alison ^b   Jamieson, Robyn ^c   Thompson, Elizabeth M ^a   Rogers, John ^d   Sillence, David ^c   Tiller, George E ^e   Mulley, John C ^a,f   Gécz, Jozef ^a,g  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b Liverpool Health Service   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d Victorian Clinical Genetics Service   (Australia)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF ADELAIDE   (Australia)

^g UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DINUCLEOTIDE; PROTEIN;

ARTICLE; BONE DISEASE; CHONDRODYSPLASIA; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE CARRIER; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MAPPING; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; STOP CODON; X CHROMOSOME RECESSIVE INHERITANCE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; TISSUE DISTRIBUTION; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0032769695     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/11976     Document Type: Article

References (23)

1. Wynne-Davies, R. & Gormley, J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J. Bone Joint Surg. [Br] 67, 133-137 (1985).
2. Bannerman, R.M., Ingall, G.B. & Mohn, J.F. X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data. J. Med. Genet. 8, 291-301 (1971).
3. Iceton, J.A. & Horne, G. Spondylo-epiphyseal dysplasia tarda: the X-linked variety in three brothers. J. Bone Joint Surg. [Br] 68, 616-619 (1986).
4. MacKenzie, J.J. et al. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. J. Med. Genet. 33, 823-828 (1996).
5. Harper, P.S., Jenkins, P. & Laurence, K.M. Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families. Br. J. Radiol. 46, 676-684 (1973).
6. Gottesman, G.S., McAlister, W.H., Eddy, M.C., Mueller, J.G. & Whyte, M.P. X-linked spondyloepiphyseal dysplasia tarda: report of a six-generation kindred, carrier detection and natural progression. J. Bone Min. Res. 11 (suppl. 1), S252-257 (1996).
7. 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 kindred and review of the literature. Medicine 78, 9-25 (1999).
8. Szpiro-Tapia, S. et al. Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum. Genet. 81, 61-63 (1988).
9. Heuertz, S. et al. The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. Genomics 18, 100-104 (1993).
10. Heuertz, S. et al. Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL). Hum. Genet. 96, 407-410 (1995).
11. Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154 (1996).
12. Ferrero, G.B. et al. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum. Mol. Genet. 4, 1821-1827 (1995).
13. de Conciliis, L. et al. Characterisation of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains. Genomics 51, 243-250 (1998).
14. Davies, J.P., Cotter, P.D. & Ioannou, Y.A. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. Genomics 41, 131-134 (1997).
15. Narayanan, V., Olinsky, S., Dahle, E., Naidu, S. & Zoghbi, H.Y. Mutation analysis of the M6B gene in patients with Rett syndrome. Am. J. Med. Genet. 78, 165-168 (1998).
16. Sacher, M. et al. TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J. 17, 2494-2503 (1998).
17. Rossi, G., Kolstad, K., Stone, S., Palluault, F. & Ferro-Novick, S. BET3 encodes a novel hydrophilic protein that acts in conjunction with yeast SNAREs. Mol. Biol. Cell 6, 1769-1780 (1995).
18. Hastbacka, J. et al. The diastrophic dysplasia gene encodes a novel sulphate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78, 1073-1087 (1994).
19. Ul Haque, F.M. et al. Mutations in orthologous genes in human spondyloepiphyseal dysplasia and the brachyomorphic mouse. Nature Genet. 20, 157-162 (1998).
20. Chang, Y.P.C., Smith, K.D. & Dover, G.J. Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci. Hum. Mol. Genet. 3, 1029 (1994).
21. Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460-465 (1984).
22. Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389-3402 (1997).
23. Chomczynski, P. & Sacci, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159 (1987).