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Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.
Am J Hum Genet 1992; 50(4):801-7AJ

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.

Authors+Show Affiliations

Clinical Genetics Center, State University Hospital, Utrecht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

1550124

Citation

Oosterwijk, J C., et al. "Linkage Analysis of Keratosis Follicularis Spinulosa Decalvans, and Regional Assignment to Human Chromosome Xp21.2-p22.2." American Journal of Human Genetics, vol. 50, no. 4, 1992, pp. 801-7.
Oosterwijk JC, Nelen M, van Zandvoort PM, et al. Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. Am J Hum Genet. 1992;50(4):801-7.
Oosterwijk, J. C., Nelen, M., van Zandvoort, P. M., van Osch, L. D., Oranje, A. P., Wittebol-Post, D., & van Oost, B. A. (1992). Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. American Journal of Human Genetics, 50(4), pp. 801-7.
Oosterwijk JC, et al. Linkage Analysis of Keratosis Follicularis Spinulosa Decalvans, and Regional Assignment to Human Chromosome Xp21.2-p22.2. Am J Hum Genet. 1992;50(4):801-7. PubMed PMID: 1550124.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. AU - Oosterwijk,J C, AU - Nelen,M, AU - van Zandvoort,P M, AU - van Osch,L D, AU - Oranje,A P, AU - Wittebol-Post,D, AU - van Oost,B A, PY - 1992/4/1/pubmed PY - 1992/4/1/medline PY - 1992/4/1/entrez SP - 801 EP - 7 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 50 IS - 4 N2 - 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. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/1550124/Linkage_analysis_of_keratosis_follicularis_spinulosa_decalvans_and_regional_assignment_to_human_chromosome_Xp21_2_p22_2_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1550124/ DB - PRIME DP - Unbound Medicine ER -