Abstract
Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.
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Chéry M, Biancalana V, Philippe C, Malpuech G, Carla H, Gilgenkrantz S, Mandel JL, Hanauer A (1994) Hypomagnesemia with secondary hypocalcemia in a female with balanced X; 9 translocation: mapping at the Xp22 chromosome break-point. Hum Genet 93:587–591
Ellison J, Passage M, Lo-Chung Y, Yen P, Mohandas TK, Shapiro L (1992) Directed isolation of human genes that escape X inactivation. Somat Cell Mol Genet 18:259–268
Genome Interactive Database (1994) Frézal J (ed) Libbey, Paris
Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H (1990) Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J 9:771–776
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993–94 Généthon human genetic linkage map. Nature Genet 7:246–339
Harper PS, Jenkins P, Laurence KM (1973) Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families. Br J Radiol 46:676–684
Heuertz S, Nelen M, Wilkie AOM, Le Merrer M, Delrieu O, Larget-Piet L, Tranebjaerg L, Bick D, Hamel B, Van Oost BA, Maroteaux P, Hors-Cayla MC (1993) The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. Genomics 18:100–104
Heuertz S, Smahi A, Sanak M, Holvoet-Vermaut L, Hors-Cayla MC (1995) Fine deletion mapping of the p22 region of the human X chromosome using a radiation-induced hybrid panel. Cytogenet Cell Genet 69:7–10
Lathrop GM, Lalouel JM, Julier C, Ott H (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446
Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frézal J, Maroteaux P, Hors-Cayla MC (1988) Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet 81:61–63
Willard HF, Cremers F, Mandel JL, Monaco AP, Nelson DL, Schlessinger D (1994) Report of the fifth international workshop on human X chromosome mapping. Cytogenet Cell Genet 67:296–328
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Heuertz, S., Smahi, A., Wilkie, A.O.M. et al. Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL). Hum Genet 96, 407–410 (1995). https://doi.org/10.1007/BF00191797
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DOI: https://doi.org/10.1007/BF00191797