Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
Katrien Janssensa, Ruth Gershoni-Baruchb, Els Van Hula, Riva Brikb, Nuria Guañabensc, Nicola Migoned, Leon A Verbruggene, Stuart H Ralstonf, Maryse Bonduelleg, Lionel Van Maldergemh, Filip Vanhoenackeri, Wim Van Hula
a Department of
Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium, b Departments of Human Genetics and Paediatrics,
Rambam Medical Centre and the Bruce Rappoport Faculty of Medicine,
Technion, Israel Institute of Technology, Haifa, Israel, c Department of Rheumatology,
Hospital Clínic, Barcelona, Spain, d Department of Genetics, Biology, and
Biochemistry, University of Torino, Torino, Italy, e Department of Rheumatology, University Hospital
of Brussels (VUB), Brussels, Belgium, f Department of Medicine and Therapeutics,
University of Aberdeen Medical School, Fosterhill, Aberdeen, UK, g Department of Medical
Genetics, University Hospital of Brussels (VUB), Brussels, Belgium, h Centre of Human Genetics, Institute of Pathology
and Genetics, Loverval, Belgium, i Department of Radiology, University Hospital of
Antwerp, Antwerp, Belgium
Correspondence to: Dr W Van Hul, vhul{at}uia.ua.ac.be
Revised version received 6 January 2000;
Accepted for publication 7 January
2000
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 (
=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).
Keywords: Camurati-Engelmann disease; progressive diaphyseal dysplasia; chromosome 19q13; sclerosing bone dysplasia
© 2000 by J Med Genet
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