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J Med Genet. 2003 October; 40(10): 747–751.
PMCID: PMC1735278

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13


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.

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