一个患有血管型埃勒斯-当洛综合征新错义COL3A1突变的家族中的颈动脉瘤夹层和A型主动脉夹层。
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
作者信息
Makrygiannis Georgios, Loeys Bart, Defraigne Jean-Olivier, Sakalihasan Natzi
机构信息
Department of Cardiovascular Surgery, University Hospital of Liège, Liège, Belgium; Department of Surgery, Surgical Research Center (CREDEC), GIGA Cardiovascular Sciences, University of Liège, Liège, Belgium.
Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
出版信息
Eur J Med Genet. 2015 Nov;58(11):634-6. doi: 10.1016/j.ejmg.2015.10.009. Epub 2015 Oct 21.
Cervical artery dissection (CeAD) is a rare condition. One of the causes is the vascular type of Ehlers-Danlos syndrome (vEDS). A novel missense mutation in COL3A1 was found in a young patient with CeAD as the single manifestation of vEDS. This is a heterozygous c.953G > A mutation in exon 14, disrupting the normal Gly-X-Y repeats of type III procollagen, by converting glycine to aspartic acid.
颈动脉夹层（CeAD）是一种罕见病症。其病因之一是血管型埃勒斯-当洛综合征（vEDS）。在一名以CeAD作为vEDS单一表现的年轻患者中发现了COL3A1基因的一种新型错义突变。这是外显子14上的一个杂合c.953G>A突变，通过将甘氨酸转变为天冬氨酸，破坏了III型前胶原正常的甘氨酸-X-酪氨酸重复序列。
Zotero 插件