title: Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
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.
authors.affiliation: University of Texas Houston Medical School, Houston, Texas 77030, USA.
authors.forename: S P
authors.initials: SP
authors.lastname: Vaughn
authors.forename: S
authors.initials: S
authors.lastname: Broussard
authors.forename: C R
authors.initials: CR
authors.lastname: Hall
authors.forename: A
authors.initials: A
authors.lastname: Scott
authors.forename: S H
authors.initials: SH
authors.lastname: Blanton
authors.forename: J M
authors.initials: JM
authors.lastname: Milunsky
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
mesh_terms: D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D020080:Tandem Repeat Sequences; D016212:Transforming Growth Factor beta / Q000235:genetics
chemical_list: D005819:Genetic Markers; D016212:Transforming Growth Factor beta