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

ABSTRACT:

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 have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions.

Methods

Our study is based on the mutation analysis of CREBBP in 31 Italian RSTS patients using segregation analysis of intragenic microsatellites, BAC FISH and direct sequencing of PCR and RT-PCR fragments.

Results

We identified a total of five deletions, two of t

SUBMITTER: Bentivegna A 

PROVIDER: S-EPMC1626071 | biostudies-literature | 2006 Oct

REPOSITORIES: biostudies-literature