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

“ Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.
Introduction Special AT-rich sequence binding protein 2 (SATB2; OMIM 608148) is a DNA-binding protein that regulates gene expression through chromatin modification and interaction with other proteins and plays roles in mammalian development [1] – [2] . In humans haploinsufficiency has been implicated in isolated cleft palate (CPI, OMIM 119540) [3] , [4] . ”

“ However, not all individuals with SATB2 abnormalities exhibit behavioral problems; the individuals reported by Brewer et al. [4] with balanced translocations disrupting SATB2 [3] had mild learning disabilities with speech delay and no report of behavior problems. Haploinsufficiency for other genes in the region may also have an impact on behavior, because the individual with a 2q31.2q32.3 deletion that did not include SATB2 also had hyperactivity, anxiety, aggressiveness, and self mutilation [19] . ”

“ Genomic DNA was extracted from peripheral blood using a Qiagen M48 Biorobot automated DNA extraction system. Purified genomic DNA was then sonicated and labeled with Alexaflour dyes 555 or 647 using a BioPrime Total DNA labeling kit (Invitrogen Corp, Carlsbad, CA) . Array hybridization and washing was performed as specified by the manufacturer (Agilent Technologies) . ”

“ Because SATB2 is highly conserved between species (99.6% between humans and mice) , a deletion of this gene in humans is predicted to affect multiple systems.
Recently, Van Buggenhout et al. [11] used a 1-Mb bacterial artificial chromosome (BAC) microarray and characterized deletions of 2q32.2q33.3 in four individuals with severe mental retardation and growth retardation, facial dysmorphism, thin and sparse hair, micrognathia, cleft or high palate, persistent feeding difficulties, inguinal hernia, and broad-based gait. ”