A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family
F Cortini, B Marinelli, S Romi… - Vascular and …, 2017 - journals.sagepub.com
F Cortini, B Marinelli, S Romi, A Seresini, AC Pesatori, M Seia, N Montano, A Bassotti
Vascular and endovascular surgery, 2017•journals.sagepub.comVascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder
caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a
pathogenetic heterozygous COL3A1 mutation c. 3140 G> A, p. Gly1047Asp, identified using
next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on
her relatives, which present different clinical phenotypes, confirmed that they carry the same
mutation in heterozygous state. This finding confirms that mutations causing vEDS have an …
caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a
pathogenetic heterozygous COL3A1 mutation c. 3140 G> A, p. Gly1047Asp, identified using
next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on
her relatives, which present different clinical phenotypes, confirmed that they carry the same
mutation in heterozygous state. This finding confirms that mutations causing vEDS have an …
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.
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