Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.
BACKGROUND
Arterial tortuosity syndrome (ATS) is an uncommon connective tissue disorder of unknown aetiology. The most prominent feature is tortuosity of the large arteries, but lengthening, stenosis, and aneurysm formation are also frequent.


METHODS
We performed a genomewide screen by homozygosity mapping of three consanguineous multiplex families, two from Morocco, and one from Italy, which included 11 ATS patients. The two families from Morocco may possibly have a common ancestor.


RESULTS
We mapped the ATS gene to chromosome 20q13. Recombinations within an extended haplotype of 11 microsatellite markers localised the ATS gene between markers D20S836 and D20S109, an interval of 9.5 cM.


CONCLUSIONS
Cloning and completing functional and structural analysis of the ATS gene may provide new insights into the molecular mechanisms of elastogenesis.
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. paul.coucke@rug.ac.be
P J
PJ
Coucke
M W
MW
Wessels
P
P
Van Acker
R
R
Gardella
S
S
Barlati
P J
PJ
Willems
M
M
Colombi
A
A
De Paepe
D000293:Adolescent; D000328:Adult; D001158:Arteries / Q000002:abnormalities*; D002648:Child; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome