Publication

CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

Oosterwijk, JC., NELEN, M., VANZANDVOORT, PM., VANOSCH, LDM., ORANJE, AP., WITTEBOLPOST, D. & VANOOST, BA., Mar-1992, In : Ophthalmic Paediatrics and Genetics. 13, 1, p. 27-30 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • JC Oosterwijk
  • M NELEN
  • PM VANZANDVOORT
  • LDM VANOSCH
  • AP ORANJE
  • D WITTEBOLPOST
  • BA VANOOST

In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at THETA = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

Original languageEnglish
Pages (from-to)27-30
Number of pages4
JournalOphthalmic Paediatrics and Genetics
Volume13
Issue number1
Publication statusPublished - Mar-1992

    Keywords

  • KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS, SIEMENS-I-SYNDROME, GENE MAPPING, X-LINKED INHERITANCE, CARRIER DETECTION, CORNEA DEGENERATION

ID: 13971098