Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region...

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Bibliographic Details
Published in:PloS one 2009-08, Vol.4 (8), p.e6568
Main Authors: Rosenfeld, Jill A, Ballif, Blake C, Lucas, Ann, Spence, Edward J, Powell, Cynthia, Aylsworth, Arthur S, Torchia, Beth A, Shaffer, Lisa G
Format: Article
Language:English
Subjects:
Abnormalities
Abnormalities, Multiple - genetics
Artificial chromosomes
Behavior
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 2
Cleft lip/palate
Dehydrogenases
Deoxyribonucleic acid
DNA
DNA-binding protein
Female
Gene expression
Genes
Genetics and Genomics
Genetics and Genomics/Gene Function
Genetics and Genomics/Medical Genetics
Genotype & phenotype
Growth rate
Haploinsufficiency
Humans
Hyperactivity
In Situ Hybridization, Fluorescence
Intellectual disabilities
Intellectual Disability - genetics
Laboratories
Male
Matrix Attachment Region Binding Proteins - genetics
Mental disorders
Pediatrics
Protein binding
Teeth
Transcription Factors - genetics
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Summary:Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0006568