The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.
OBJECTIVE
To delineate the clinical features in patients with the autosomal recessive camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) and to determine the location of the involved gene.


METHODS
Eight affected individuals (ages 2-15 years) with CACP from 4 consanguineous kindreds were clinically evaluated. Four patients are newly described and 4 have been reported previously. Findings were compared with those in 21 other previously reported cases. DNA obtained from the 8 affected patients and their available siblings and parents was used in a genome-wide search for linkage.


RESULTS
Congenital camptodactyly and childhood-onset noninflammatory arthropathy were present in all affected patients. Seven patients developed bilateral coxa vara deformity, and 1 developed coxa magna with cystic erosions. Two of the patients also had symptoms or signs of pericarditis. A genome-wide search for linkage identified homozygosity for a series of genetic markers on human chromosome 1q in all affected patients. The marker D1S191 yielded a maximum logarithm of the odds ratio (LOD score) of 3.3 at theta = 0. The CACP gene lies within a 1.9-cM candidate interval defined by the markers D1S2107 and D1S222.


CONCLUSIONS
The principal features of the CACP syndrome are congenital or early-onset camptodactyly and childhood-onset noninflammatory arthropathy. Coxa vara deformity or other dysplasia associated with progressive hip disease may develop over time. Clinical pericarditis may also occur. A locus responsible for causing CACP syndrome is assigned to a 1.9-cM interval on human chromosome 1q25-31 by homozygosity mapping. This now facilitates the identification of the responsible gene and permits testing for locus homogeneity in other CACP kindreds.
Bahabri
S A
SA
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Suwairi
W M
WM
Laxer
R M
RM
Polinkovsky
A
A
Dalaan
A A
AA
Warman
M L
ML
D000293:Adolescent; D000843:Ankle Joint / Q000002:abnormalities; D001171:Arthritis, Juvenile / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003286:Contracture / Q000151:congenital; D004551:Elbow Joint / Q000002:abnormalities; D005260:Female; D005384:Finger Joint / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D005819:Genetic Markers / Q000235:genetics; D006615:Hip / Q000002:abnormalities; D006621:Hip Joint / Q000002:abnormalities*; D006720:Homozygote; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010493:Pericarditis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014955:Wrist Joint / Q000002:abnormalities
D005819:Genetic Markers