SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations

Abstract

The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2-associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Keywords: 2q32 deletion syndrome; 2q33.1 microdeletion syndrome; Glass syndrome; SATB2; SATB2-associated syndrome.

Figure 1

UCSC Genome Browser (GRCh37/hg19) assembly depiction of published deletions encompassing SATB2 included in this review. Deletions are represented in red while duplications are represented in blue. [Color figure can be viewed at wileyonlinelibrary.com].

Figure 2

A. Schematic diagram of the SATB2 protein according to Uniprot and Pfam with location of point mutations depicted with arrows. In addition to the two CUT domains (CUT1 and CUT2) and a homeodomain (HOX), the SATB, ubiquitin‐like oligomerization domain (ULD) and the SATB, CUT1‐like DNA‐binding domain (CUTL) are depicted. B. Presence (+) or absence (−) of the main clinical features for those point mutations represented in A. Blank spaces represent no information provided for the given feature. ^aNM_001172517, accessed June 2016; ^bNM_15265, accessed June 2016; ^cNM_001172509, accessed June 2016. [Color figure can be viewed at wileyonlinelibrary.com].