Foley Patricia, Bunyan David, Stratton John, Dillon Michelle, Lynch Sally Ann
Our Lady's Childrens Hospital, National Centre for Medical Genetics, Dublin, Crumlin, Ireland.
Am J Med Genet A. 2009 May;149A(5):997-1000. doi: 10.1002/ajmg.a.32771.
Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son.
鲁宾斯坦-泰比综合征（RSTS）是一种异质性疾病，约45%-55%的患者在CREB结合蛋白中存在突变，另有3%的患者在EP300中存在突变。我们报告了一名患有RSTS的男性儿童，其EP300基因的外显子3-8缺失。他的骨骼表型较轻，这一发现已在其他EP300突变病例中有所描述。母亲在孕期患有子痫前期和HELLP综合征。在儿子出生6年后，她随后患上了宫颈苗勒管肿瘤。
