TY - JOUR AU - Yang, Ren-Qiang AU - Jabbari, Javad AU - Cheng, Xiao-Shu AU - Jabbari, Reza AU - Nielsen, Jonas B. AU - Risgaard, Bjarke AU - Chen, Xu AU - Sajadieh, Ahmad AU - Haunsø, Stig AU - Svendsen, Jesper Hastrup AU - Olesen, Morten S. AU - Tfelt-Hansen, Jacob PY - 2014 DA - 2014/06/18 TI - New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome JO - BMC Genetics SP - 74 VL - 15 IS - 1 AB - Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as many of the original studies used low number of controls. To study whether there are possible false-positive variants associated with MFS, four in silico prediction tools (SIFT, Polyphen-2, Grantham score, and conservation across species) were used to predict the pathogenicity of these variant. SN - 1471-2156 UR - https://doi.org/10.1186/1471-2156-15-74 DO - 10.1186/1471-2156-15-74 ID - Yang2014 ER -