A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome

Angeline H M Lai; Maggie S Brett; Wai-Hoe Chin; Eileen C P Lim; Jasmine S H Ng; Ene-Choo Tan

doi:10.1016/j.gene.2012.02.043

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome

Gene. 2012 May 10;499(1):182-5. doi: 10.1016/j.gene.2012.02.043. Epub 2012 Mar 9.

Authors

Angeline H M Lai¹, Maggie S Brett, Wai-Hoe Chin, Eileen C P Lim, Jasmine S H Ng, Ene-Choo Tan

Affiliation

¹ Genetics Service, KK Women's and Children's Hospital, Republic of Singapore.

PMID: 22426292
DOI: 10.1016/j.gene.2012.02.043

Abstract

We report a girl with Rubinstein-Taybi syndrome (RSTS) who was found to have copy number loss on 16p13.3 by array-CGH. She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad thumbs and big toes, postaxial polydactyly of the right foot and constipation from birth. We report the junction sequence across the breakpoint region for a microdeletion in RSTS. The sequencing results also showed that the deletion was 81.4kb involving three genes DNASE 1, TRAP 1, and CREBBP.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Base Sequence
CREB-Binding Protein / genetics*
Child
Comparative Genomic Hybridization
DNA Mutational Analysis / methods
Female
Humans
Infant
Male
Molecular Sequence Data
Rubinstein-Taybi Syndrome / genetics*
Sequence Deletion* / physiology
Siblings

Substances

CREB-Binding Protein
CREBBP protein, human