Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
Genet Test
; 10(4): 265-71, 2006.
Article
em En
| MEDLINE
| ID: mdl-17253932
ABSTRACT
Rubinstein-Taybi syndrome (RTS, MIM 180849) is a multiple malformation syndrome characterized by growth retardation, developmental delay, and dysmorphic features, including down-slanting palpebral fissures, a beaked nose, broad thumbs, and halluces. Mutations in the gene encoding the CREB-binding protein gene (CREBBP, also known as CBP) on chromosome 16p13.3 were identified in 1995. Recently, we developed a mutation analysis protocol using denaturing high-performance liquid chromatography (DHPLC) and identified heterozygous CREBBP mutations in 12 of 21 RTS patients. To test whether exonic deletions represent a common pathogenic mechanism, we assessed the copy number of all the coding exons using a recently developed method, the multiplex PCR/liquid chromatography assay (MP/LC). By using MP/LC, we performed screening for CREBBP exonic deletions among 25 RTS patients in whom no point mutations or small insertions/deletions were identified by DHPLC screening. We identified four classic RTS patients with deletions encompassing multiple exons (14-16, 5-31, 1-16, and 4-26). We conclude that large deletions including several exons are a relatively frequent cause of RTS, and that MP/LC is an effective method for detecting these deletions.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rubinstein-Taybi
/
Testes Genéticos
/
Reação em Cadeia da Polimerase
/
Cromatografia Líquida de Alta Pressão
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Deleção de Genes
/
Proteína de Ligação a CREB
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article