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. 2009 Aug 10;4(8):e6568.
doi: 10.1371/journal.pone.0006568.

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

Jill A Rosenfeld  1 , Blake C Ballif, Ann Lucas, Edward J Spence, Cynthia Powell, Arthur S Aylsworth, Beth A Torchia, Lisa G Shaffer
Affiliations

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

Jill A Rosenfeld et al. PLoS One. .

Abstract

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.

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Conflict of interest statement

Competing Interests: L.G. Shaffer sits on the Members' Board of, owns shares in, and is an employee of Signature Genomic Laboratories, LLC. J.A. Rosenfeld, B.C. Ballif and B.A. Torchia are employees of Signature Genomic Laboratories, LLC.

Figures

Figure 1
Figure 1. Analysis of individuals with microdeletions of 2q33.1.
(A–D) Oligonucleotide microarray profiles for (A) normal chromosome 2, (B) a single-copy loss of 183.6 kb at 2q33.1 in subject 1, (C) a single-copy loss 173.1 kb at 2q33.1 in subject 2, and (D) a single-copy loss of 185.2 kb at 2q33.1 in subject 3. For the microarray plots, clones are ordered on the x axis according to physical mapping positions with proximal 2q33.1 to the left and distal 2q33.1 to the right. (E) Summary of the deletion sizes in individuals with microdeletions encompassing 2q33.1. Green bars indicate the approximate deletion sizes in individuals in the Van Buggenhout et al. study (upper portion of diagram) and the current study (bottom of diagram). The SATB2 gene is indicated by a red box.
Figure 2
Figure 2
(A) Facial image of subject 1 at age 2 years, 9 months. (B) Facial image of subject 1 at age 9 years, 8 months. Subject is in mixed dentition and is missing her maxillary central incisors. (C) Front and (D) profile facial images of subject 2 at age 10 years. Note the broad nasal midsection, small mandible, and macrocephaly.
See this image and copyright information in PMC

References

    1. Britanova O, Akopov S, Lukyanov S, Gruss P, Tarabykin V. Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS. Eur J Neurosci. 2005;21:658–668. - PubMed
    1. Dobreva G, Dambacher J, Grosschedl R. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. Genes Dev. 2003;17:3048–3061. - PMC - PubMed
    1. Alcamo EA, Chirivella L, Dautzenberg M, Dobreva G, Farinas I, et al. Satb2 regulates callosal projection neuron identity in the developing cerebral cortex. Neuron. 2008;57:364–377. - PubMed
    1. Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, et al. SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. Cell. 2006;125:971–986. - PubMed
    1. FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet. 2003;12:2491–2501. - PubMed

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