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.
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.
Authors: Syed H E Zaidi; Sascha Meyer; Vanya D Peltekova; Angelika Lindinger; Ahmad S Teebi; Muhammad Faiyaz-Ul-Haque Journal: Eur J Pediatr Date: 2008-09-26 Impact factor: 3.183
Authors: Marco Ritelli; Bruno Drera; Mariano Vicchio; Giovanni Puppini; Paolo Biban; Mara Pilati; Maria Antonia Prioli; Sergio Barlati; Marina Colombi Journal: Orphanet J Rare Dis Date: 2009-09-25 Impact factor: 4.123
Authors: Alejandro A Pezzulo; Jeydith Gutiérrez; Kelly S Duschner; Kelly S McConnell; Peter J Taft; Sarah E Ernst; Timothy L Yahr; Kamal Rahmouni; Julia Klesney-Tait; David A Stoltz; Joseph Zabner Journal: PLoS One Date: 2011-01-20 Impact factor: 3.240