title: Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.
abstract: 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 intellectual disability, nearly absent speech and suspected hypodontia who was shown to carry an intragenic SATB2 tandem duplication hypothesized to lead to haploinsufficiency of SATB2. 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.
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Ann-Sophie
authors.initials: AS
authors.lastname: Kaiser
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Bianca
authors.initials: B
authors.lastname: Maas
authors.affiliation: Department of Conservative Dentistry, Heidelberg University, Heidelberg, Germany.
authors.forename: Anna
authors.initials: A
authors.lastname: Wolff
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Sutter
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Johannes W G
authors.initials: JW
authors.lastname: Janssen
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Katrin
authors.initials: K
authors.lastname: Hinderhofer
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
mesh_terms: D000848:Anodontia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D005091:Exons; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007438:Introns; D036961:Matrix Attachment Region Binding Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D036961:Matrix Attachment Region Binding Proteins; C521297:SATB2 protein, human; D014157:Transcription Factors