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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1992 Apr;50(4):801–807.

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

J C Oosterwijk 1, M Nelen 1, P M van Zandvoort 1, L D van Osch 1, A P Oranje 1, D Wittebol-Post 1, B A van Oost 1
PMCID: PMC1682639  PMID: 1550124

Abstract

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-chromosomal disorder. It consists of follicular hyperkeratosis of the skin, scarring alopecia of the scalp, absence of the eyebrows, and corneal degeneration. There is photophobia in childhood, but the symptoms tend to diminish after puberty, and prognosis for vision is good. Some heterozygotes do show clinical symptoms. In a large Dutch pedigree we performed DNA analysis in order to localize the KFSD gene. In 54 individuals, including 21 affected males, RFLP analysis was done using DNA probes covering the X chromosome. Two-point linkage analyses with 19 informative DNA markers revealed significant linkage to DNA probes on Xp21.1-p22.3. The highest lod scores of 5.70 and 4.38 were obtained with DXS41 and DXS16 at a recombination fraction of zero and 4 cM, respectively. Multipoint linkage data place KFSD between DXS16 and DXS269. Our data confirm X linkage of KFSD in this family and tentatively map the gene on Xp22.2-p21.2. Combined with clinical investigation, RFLP analysis may become an important tool in carrier detection.

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Selected References

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

  1. Alitalo T., Kruse T. A., Ahrens P., Albertsen H. M., Eriksson A. W., de la Chapelle A. Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region. Hum Genet. 1991 Apr;86(6):599–603. doi: 10.1007/BF00201548. [DOI] [PubMed] [Google Scholar]
  2. Alitalo T., Kruse T. A., de la Chapelle A. Refined localization of the gene causing X-linked juvenile retinoschisis. Genomics. 1991 Mar;9(3):505–510. doi: 10.1016/0888-7543(91)90417-d. [DOI] [PubMed] [Google Scholar]
  3. Brown C. J., Mahtani M. M., Willard H. F. Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome. Hum Genet. 1988 Nov;80(3):296–298. doi: 10.1007/BF01790101. [DOI] [PubMed] [Google Scholar]
  4. Davies K. E., Mandel J. L., Monaco A. P., Nussbaum R. L., Willard H. F. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1990;55(1-4):254–313. doi: 10.1159/000133019. [DOI] [PubMed] [Google Scholar]
  5. Del Mastro R. G., Farndon P. A., Kilpatrick M. W. A recombination map of the human X-chromosome. Hum Genet. 1990 Dec;86(2):228–230. doi: 10.1007/BF00197710. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Guillet G., Labouche F., Cambazard F., Plantin P., Gall Y., Le Jollec A., Zagnoli A., Parent P. Kératoses folliculaires décalvantes: discussion nosologique de la maladie de Siemens. A propos de trois cas. Pediatrie. 1987;42(6):437–440. [PubMed] [Google Scholar]
  8. Happle R. X-chromosomal vererbte Dermatosen. Hautarzt. 1982 Feb;33(2):73–81. [PubMed] [Google Scholar]
  9. Hazell M., Marks R. Follicular ichthyosis. Br J Dermatol. 1984 Jul;111(1):101–109. doi: 10.1111/j.1365-2133.1984.tb04023.x. [DOI] [PubMed] [Google Scholar]
  10. JONKERS G. H. Hyperkeratosis follicularis and cornea degeneration. Ophthalmologica. 1950 Nov;120(5):365–367. doi: 10.1159/000300909. [DOI] [PubMed] [Google Scholar]
  11. Keats B., Ott J., Conneally M. Report of the committee on linkage and gene order. Cytogenet Cell Genet. 1989;51(1-4):459–502. doi: 10.1159/000132805. [DOI] [PubMed] [Google Scholar]
  12. Kidd K. K., Bowcock A. M., Schmidtke J., Track R. K., Ricciuti F., Hutchings G., Bale A., Pearson P., Willard H. F., Gelernter J. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989;51(1-4):622–947. doi: 10.1159/000132810. [DOI] [PubMed] [Google Scholar]
  13. Kuokkanen K. Keratosis follicularis spinulosa decalvans in a family from northern Finland. Acta Derm Venereol. 1971;51(2):146–150. [PubMed] [Google Scholar]
  14. Köhler U., Müller W., Schubert H., Lukassek B. Beitrag zum Siemens-I-Syndrom. Klin Monbl Augenheilkd. 1981 Aug;179(2):123–127. doi: 10.1055/s-2008-1057277. [DOI] [PubMed] [Google Scholar]
  15. 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]
  16. Musarella M. A., Anson-Cartwright L., Leal S. M., Gilbert L. D., Worton R. G., Fishman G. A., Ott J. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics. 1990 Oct;8(2):286–296. doi: 10.1016/0888-7543(90)90284-2. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Rand R., Baden H. P. Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. Arch Dermatol. 1983 Jan;119(1):22–26. doi: 10.1001/archderm.119.1.22. [DOI] [PubMed] [Google Scholar]
  18. Willems P. J., Hendrickx J., Van der Auwera B. J., Vits L., Raeymaekers P., Coucke P. J., Van den Bergh I., Berger R., Smit G. P., Van Broeckhoven C. Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. Genomics. 1991 Apr;9(4):565–569. doi: 10.1016/0888-7543(91)90347-h. [DOI] [PubMed] [Google Scholar]
  19. Zhu D., Alcorn D. M., Antonarakis S. E., Levin L. S., Huang P. C., Mitchell T. N., Warren A. C., Maumenee I. H. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Hum Genet. 1990 Nov;86(1):54–58. doi: 10.1007/BF00205172. [DOI] [PubMed] [Google Scholar]
  20. van Oost B. A., Smits A., Dreesen J. C., Smeets D., Perdon L., van Bennekom C. A., Dahl N., Bakker E., Oostra B. A. Multipoint linkage analysis of DXS369 and DXS304 in fragile X families. Am J Med Genet. 1991 Feb-Mar;38(2-3):328–331. doi: 10.1002/ajmg.1320380232. [DOI] [PubMed] [Google Scholar]

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