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Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Abstract：

:Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55% and ˜3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients have been described and 12 additional mutations are reported in the database LOVD. In this study, EP300 analysis was performed on 33 CREBBP-negative RSTS patients leading to the identification of six unreported germline EP300 alterations comprising one deletion and five point mutations. All six patients showed a convincing, albeit mild, RSTS phenotype with minor skeletal anomalies, slight cognitive impairment and few major malformations. Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (˜8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Negri G,Milani D,Colapietro P,Forzano F,Della Monica M,Rusconi D,Consonni L,Caffi LG,Finelli P,Scarano G,Magnani C,Selicorni A,Spena S,Larizza L,Gervasini C

doi

10.1111/cge.12348

subject

Has Abstract

pub_date

2015-02-01 00:00:00

pages

148-54

issue

2

eissn

0009-9163

issn

1399-0004

journal_volume

87

pub_type

杂志文章

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