Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
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.
Vaughn
S P
SP
University of Texas Houston Medical School, Houston, Texas 77030, USA.
Broussard
S
S
Hall
C R
CR
Scott
A
A
Blanton
S H
SH
Milunsky
J M
JM
Hecht
J T
JT
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
D005819:Genetic Markers; D016212:Transforming Growth Factor beta