Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1995 Sep;32(9):736–739. doi: 10.1136/jmg.32.9.736

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

J C Oosterwijk 1, M J van der Wielen 1, E van de Vosse 1, E Voorhoeve 1, E Bakker 1
PMCID: PMC1051677  PMID: 8544196

Abstract

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. Analysis of recombination events locates the gene for KFSD between AFM291wf5 and DXS1226 (AFM316yf5). This is region Xp22.13-p22.2, an area covering approximately 1 Mb. These data confirm and greatly refine the regional localisation of KFSD and greatly improve reliability of carrier detection.

Full text

PDF
736

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alitalo T., Francis F., Kere J., Lehrach H., Schlessinger D., Willard H. F. A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. Genomics. 1995 Feb 10;25(3):691–700. doi: 10.1016/0888-7543(95)80012-b. [DOI] [PubMed] [Google Scholar]
  2. Bergen A. A., ten Brink J. B., Bleeker-Wagemakers L. M., van Schooneveld M. J. Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. J Med Genet. 1994 Dec;31(12):972–975. doi: 10.1136/jmg.31.12.972. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Biancalana V., Trivier E., Weber C., Weissenbach J., Rowe P. S., O'Riordan J. L., Partington M. W., Heyberger S., Oudet C., Hanauer A. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics. 1994 Aug;22(3):617–625. doi: 10.1006/geno.1994.1435. [DOI] [PubMed] [Google Scholar]
  4. Browne D., Barker D., Litt M. Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci. Hum Mol Genet. 1992 Jun;1(3):213–213. doi: 10.1093/hmg/1.3.213. [DOI] [PubMed] [Google Scholar]
  5. Church G. M., Gilbert W. Genomic sequencing. Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991–1995. doi: 10.1073/pnas.81.7.1991. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Clemens P. R., Fenwick R. G., Chamberlain J. S., Gibbs R. A., de Andrade M., Chakraborty R., Caskey C. T. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 Nov;49(5):951–960. [PMC free article] [PubMed] [Google Scholar]
  7. FRANCESCHETTI A., JACCOTTET M., JADASSOHN W. Manifestations cornéennes dans la keratosis follicularis spinulosa decalvans (Siemens). Ophthalmologica. 1957 Apr-May;133(4-5):259–263. doi: 10.1159/000303108. [DOI] [PubMed] [Google Scholar]
  8. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  9. Keats B. J., Sherman S. L., Morton N. E., Robson E. B., Buetow K. H., Cartwright P. E., Chakravarti A., Francke U., Green P. P., Ott J. Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics. 1991 Mar;9(3):557–560. doi: 10.1016/0888-7543(91)90426-f. [DOI] [PubMed] [Google Scholar]
  10. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
  11. Oosterwijk J. C., Nelen M., van Zandvoort P. M., van Osch L. D., Oranje A. P., Wittebol-Post D., van Oost B. A. Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. Am J Hum Genet. 1992 Apr;50(4):801–807. [PMC free article] [PubMed] [Google Scholar]
  12. Oranje A. P., van Osch L. D., Oosterwijk J. C. Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities? Arch Dermatol. 1994 Apr;130(4):500–502. doi: 10.1001/archderm.130.4.500. [DOI] [PubMed] [Google Scholar]
  13. Rowe P. S., Goulding J., Read A., Lehrach H., Francis F., Hanauer A., Oudet C., Biancalana V., Kooh S. W., Davies K. E. Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2). Hum Genet. 1994 Mar;93(3):291–294. doi: 10.1007/BF00212025. [DOI] [PubMed] [Google Scholar]
  14. Schaefer L., Ferrero G. B., Grillo A., Bassi M. T., Roth E. J., Wapenaar M. C., van Ommen G. J., Mohandas T. K., Rocchi M., Zoghbi H. Y. A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul;4(3):272–279. doi: 10.1038/ng0793-272. [DOI] [PubMed] [Google Scholar]
  15. Willard H. F., Cremers F., Mandel J. L., Monaco A. P., Nelson D. L., Schlessinger D. Report and abstracts of the Fifth International Workshop on Human X Chromosome Mapping 1994. Heidelberg, Germany, April 24-27, 1994. Cytogenet Cell Genet. 1994;67(4):295–358. doi: 10.1159/000133870. [DOI] [PubMed] [Google Scholar]
  16. van Osch L. D., Oranje A. P., Keukens F. M., van Voorst Vader P. C., Veldman E. Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. J Med Genet. 1992 Jan;29(1):36–40. doi: 10.1136/jmg.29.1.36. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES