Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.

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SATB 2 , a gene encoding a highly conserved DNA-binding protein , is known to have an important role in craniofacial and neuronal development . Only a few patients with SATB 2 variants have been described so far . Recently , Döcker et al provided a summary of these patients and delineated the SAS (SATB 2 -associated syndrome ). We here report on a girl with intellectual disability , nearly absent speech and suspected hypodontia who was shown to carry an intragenic SATB 2 tandem duplication hypothesized to lead to haploinsufficiency of SATB 2 . Preliminary information on this patient had already been included in the article by Döcker et al . We want to give a detailed description of the patient 's phenotype and genotype , providing further insight into the spectrum of the molecular mechanisms leading to SAS .European Journal of Human Genetics advance online publication , 13 August 2014 ; doi :10 .1038 /ejhg .2014 .163 .