Confirmation of the mapping of the Camurati-Englemann locus to 19q13.2 and refinement to a 3.2-cM region

Stacia P. Vaughn, Sherrice Broussard, Catherine Rhoades Hall, Allison Scott, Susan H. Blanton, Jeff M. Milunsky, Jacqueline T. Hecht

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

Camurati-Englemann syndrome (DPD1) is an autosomal dominant condition associated with progressive cortical sclerosis of the diaphyses of all the long bones. Clinical features include abnormal gait, muscle weakness and wasting, and generalized fatigue. The DPD1 gene was recently mapped to a 15.1-cM region on chromosome 19q13.2. We have narrowed the region containing the DPD1 gene to a 3.2-cM region flanked by short tandem repeat markers, D19S881 and D19S718. TGFB1, a candidate gene mapped within this region, was excluded. (C) 2000 Academic Press.

Original languageEnglish (US)
Pages (from-to)119-121
Number of pages3
JournalGenomics
Volume66
Issue number1
DOIs
StatePublished - May 15 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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