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Further case of Rubinstein–Taybi syndrome due to a deletion in EP300
Author(s) -
Foley Patricia,
Bunyan David,
Stratton John,
Dillon Michelle,
Lynch Sally Ann
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32771
Subject(s) - rubinstein–taybi syndrome , hellp syndrome , creb binding protein , exon , phenotype , gene , biology , genetics , medicine , pregnancy , creb , preeclampsia , transcription factor
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. © 2009 Wiley‐Liss, Inc.