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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
  1. P J Coucke1,
  2. M W Wessels2,
  3. P Van Acker1,
  4. R Gardella3,
  5. S Barlati3,
  6. P J Willems4,
  7. M Colombi3,
  8. A De Paepe1
  1. 1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  2. 2Department of Clinical Genetics and Obstetrics and Gynecology, Erasmus University Medical Center, Rotterdam, The Netherlands
  3. 3Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
  4. 4Synergene, Antwerp, Belgium
  1. Correspondence to:
 Paul Coucke
 Ghent University Hospital, Department of Medical Genetics, De Pintelaan 185, B-9000 Ghent, Belgium; paul.couckerug.ac.be

Abstract

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.

  • tortuosity
  • connective tissue
  • homozygosity mapping
  • ATS, arterial tortuosity syndrome
  • EDS, Ehlers-Danlos syndrome

https://doi.org/10.1136/jmg.40.10.747

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