2014 / ENGLISH

A.S. Kaiser, B. Maas, A. Wolff, C. Sutter, J.W.G. Janssen, K. Hinderhofer, U. Moog.
European Journal of Human Genetics, 13 August 2014; doi:10.1038/ejhg.2014.163.

« SATB2, 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 SATB2 variants have been described so far. Recently, Döcker et al provided a summary of these patients and delineated the SAS (SATB2-associated syndrome). We here report on a girl with itellectual disability, nearly absent speech and suspected hypodontia who has shown to carry an intragenic SATB2 tandem duplication hypothesized to lead to haploinsufficiency of SATB2. Preliminary information on this patient had already benn 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. (…) »