Confirmation of X-Linked Inheritance and Provisional Mapping of the Keratosis Follicularis Spinulosa Decalvans Gene on XP in a Large Dutch Family

Jan C. Oosterwijk Clinical Genetics Center Utrecht

Marcel Nelen DNA-diagnostics Laboratory, Department of Human Genetics, University Hospital, Nijmegen

Peter M. Van Zandvoort DNA-diagnostics Laboratory, Department of Human Genetics, University Hospital, Nijmegen

Loes D. M. van Osch Netherlands Ophthalmic Research Institute, Amsterdam

Arnold P. Oranje Department of Dermatology, Sophia Children's Hospital, Rotterdam

Dienke Wittebol-Post Department of Ophthalmology, State University Hospital, Utrecht, The Netherlands

Bernard A. van Oost DNA-diagnostics Laboratory, Department of Human Genetics, University Hospital, Nijmegen

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Abstract

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 0 = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2–p22.2.

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Confirmation of X-Linked Inheritance and Provisional Mapping of the Keratosis Follicularis Spinulosa Decalvans Gene on XP in a Large Dutch Family

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Confirmation of X-Linked Inheritance and Provisional Mapping of the Keratosis Follicularis Spinulosa Decalvans Gene on XP in a Large Dutch Family

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