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Article

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

BMC medical genetics - 19 Oct 2006

Bentivegna Angela, Milani Donatella, Gervasini Cristina, Castronovo Paola, Mottadelli Federica, Manzini Stefano, Colapietro Patrizia, Giordano Lucio, Atzeri Francesca, Divizia Maria T, Uzielli Maria L Giovannucci, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia

Abstract excerpt

BACKGROUND: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caused by chromosomal rearrangements and point mutations in one copy of the CREB-binding protein gene (CREBBP or CBP) in 16p13.3. To date mutations in CREBBP...

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Identifiers

PMID: 17052327
DOI: 10.1186/1471-2350-7-77
PMCID: PMC1626071

Genes

CREBBP

Variants

Provenance

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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.PMID 17052327Read ↗

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patientsSemantic proximity Read ↗

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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.Semantic proximity Read ↗

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.Semantic proximity Read ↗

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.Semantic proximity Read ↗

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