Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography

Toru Udaka, Kenji Kurosawa, Kosuke Izumi, Shinobu Yoshida, Masato Tsukahara, Nobuhiko Okamoto, Chiharu Torii, Rika Kosaki, Mitsuo Masuno, Noboru Hosokai, Takao Takahashi, Kenjiro Kosaki

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11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)265-271
Number of pages7
JournalGenetic Testing
Volume10
Issue number4
DOIs
Publication statusPublished - 2006 Dec 1

ASJC Scopus subject areas

  • Genetics(clinical)

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    Udaka, T., Kurosawa, K., Izumi, K., Yoshida, S., Tsukahara, M., Okamoto, N., Torii, C., Kosaki, R., Masuno, M., Hosokai, N., Takahashi, T., & Kosaki, K. (2006). Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography. Genetic Testing, 10(4), 265-271. https://doi.org/10.1089/gte.2006.10.265