Elçioglu N, Mackie-Ogilvie C, Daker M, Berry A C
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Acta Paediatr. 1998 Jan;87(1):48-53. doi: 10.1080/08035259850157868.
Williams syndrome is a rare neurodevelopmental disorder with variable phenotypic expression and a contiguous gene syndrome caused by deletion of the elastin gene. In our study, hemizygosity at the elastin locus was investigated using FISH analyses in 16 sporadic cases with a firm clinical diagnosis of Williams syndrome, and the characteristic features were evaluated. Fourteen patients were found to have deletions; 2 further patients did not have deletions of the elastin gene, but did have the clinical features. The presence of two copies of the elastin gene locus in a patient does not rule out Williams syndrome as a diagnosis. Since deletion of the elastin gene, which continues to be a useful confirmatory diagnostic test, cannot account for several features found in Williams syndrome, the non-deletion patients will be valuable in further delineation of the critical region responsible for the Williams syndrome phenotype.
威廉姆斯综合征是一种罕见的神经发育障碍，具有可变的表型表达，是由弹性蛋白基因缺失引起的一种邻接基因综合征。在我们的研究中，对16例临床确诊为威廉姆斯综合征的散发病例进行了荧光原位杂交（FISH）分析，以研究弹性蛋白基因座的半合子状态，并评估其特征。发现14例患者存在缺失；另外2例患者虽没有弹性蛋白基因缺失，但具有临床特征。患者中存在两份弹性蛋白基因座并不排除威廉姆斯综合征的诊断。由于弹性蛋白基因缺失（这仍然是一种有用的确诊诊断测试）无法解释威廉姆斯综合征中发现的几个特征，因此非缺失患者对于进一步划定导致威廉姆斯综合征表型的关键区域将具有重要价值。
