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Original article
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
  1. Katrien Janssensa,
  2. Ruth Gershoni-Baruchb,
  3. Els Van Hula,
  4. Riva Brikb,
  5. Nuria Guañabensc,
  6. Nicola Migoned,
  7. Leon A Verbruggene,
  8. Stuart H Ralstonf,
  9. Maryse Bonduelleg,
  10. Lionel Van Maldergemh,
  11. Filip Vanhoenackeri,
  12. Wim Van Hula
  1. aDepartment of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium, bDepartments of Human Genetics and Paediatrics, Rambam Medical Centre and the Bruce Rappoport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel, cDepartment of Rheumatology, Hospital Clínic, Barcelona, Spain, dDepartment of Genetics, Biology, and Biochemistry, University of Torino, Torino, Italy, eDepartment of Rheumatology, University Hospital of Brussels (VUB), Brussels, Belgium, fDepartment of Medicine and Therapeutics, University of Aberdeen Medical School, Fosterhill, Aberdeen, UK, gDepartment of Medical Genetics, University Hospital of Brussels (VUB), Brussels, Belgium, hCentre of Human Genetics, Institute of Pathology and Genetics, Loverval, Belgium, iDepartment of Radiology, University Hospital of Antwerp, Antwerp, Belgium
  1. Dr W Van Hul, vhul{at}uia.ua.ac.be

Abstract

Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown.

In order to localise the disease causing gene, we performed a linkage study in a large Jewish-Iraqi family with 18 affected subjects in four generations. A genome wide search with highly polymorphic markers showed linkage with several markers at chromosome 19q13. A maximum lod score of 4.9 (θ=0) was obtained with markers D19S425 (58.7 cM, 19q13.1) and D19S900 (67.1 cM, 19q13.2). The disease causing gene is located in a candidate region of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4).

  • Camurati-Engelmann disease
  • progressive diaphyseal dysplasia
  • chromosome 19q13
  • sclerosing bone dysplasia

https://doi.org/10.1136/jmg.37.4.245

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