Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Josephina A N MeesterGeert VandeweyerIsabel PintelonMartin M Y LammensLana Van HoorickSimon De BelderKathryn WaitzmanLuciana YoungLarry W MarkhamJulie VogtJulie RicherLuc M BeauchesneSheila UngerAndrea Superti-FurgaMilan PrsaRami DhillonEdwin ReyniersHarry C DietzWim WuytsGeert MortierAline VerstraetenLut Van LaerBart L LoeysPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
In conclusion, BGN gene defects in humans cause an X-linked syndromic form of severe TAAD that is associated with preservation of elastic fibers and increased TGF-β signaling.Genet Med 19 4, 386-395.