Further Case of Rubinstein-Taybi Syndrome Due to a Deletion in EP300

被引：45

作者：

Foley, Patricia ^{[1
]}

Bunyan, David ^{[2
]}

Stratton, John ^{[3
]}

Dillon, Michelle ^{[4
]}

Lynch, Sally Ann ^{[1
]}

机构：

[1] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, Ireland

[2] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

[3] Waterford Reg Hosp Obstet Waterford, Dept Obstet, Munster, Ireland

[4] St Lukes Gen Hosp Pediat Kilkenny, Dept Pediat, Kilkenny, Leinster, Ireland

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 05期

关键词：

Rubinstein-Taybi; EP300; HELLP syndrome; mulerian tumor; pre-eclampsia; GENETIC-HETEROGENEITY; MUTATIONS; CBP;

D O I：

10.1002/ajmg.a.32771

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 4-5-55% 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. (C) 2009 Wiley-Liss, Inc.

引用

页码：997 / 1000

页数：4

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