Morris C A, Loker J, Ensing G, Stock A D
Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102.
Am J Med Genet. 1993 Jul 1;46(6):737-44. doi: 10.1002/ajmg.1320460634.
Supravalvular aortic stenosis (SVAS) is an autosomal dominant disorder characterized by abnormalities of development of the great vessels. SVAS is also commonly part of Williams syndrome. Linkage to the elastin gene on chromosome 7q11 has recently been reported in two kindreds with SVAS. Previous reports of patients with 7q11 deletions have noted great vessel abnormalities in some. We report on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVAS is the result of a mutation of elastin at 7q11.23 region. The propositus of the translocation family has some minor anomalies which occur in Williams syndrome, suggesting that elastin abnormalities may cause some of the abnormalities found in Williams syndrome.
主动脉瓣上狭窄（SVAS）是一种常染色体显性疾病，其特征为大血管发育异常。SVAS也是威廉姆斯综合征的常见组成部分。最近在两个患有SVAS的家族中报道了与7号染色体长臂11区弹性蛋白基因的连锁关系。先前关于7q11缺失患者的报道指出，其中一些患者存在大血管异常。我们报告了一个家族，其中SVAS与一种平衡的相互易位t(6;7)(p21.1;q11.23)共分离，这进一步证明SVAS是7q11.23区域弹性蛋白突变的结果。该易位家族的先证者有一些在威廉姆斯综合征中出现的轻微异常，提示弹性蛋白异常可能导致威廉姆斯综合征中发现的一些异常。
