Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

Further delineation of the SATB2 phenotype

“…10,17 Extent and position of the deletions are derived from the respective original articles. Exons are shown in real relative size (according to NM_001172517.1), whereas intronic areas are standardized and sized down.…”

“…[6][7][8][9] SATB2 is deleted in the contiguous 2q32q33 deletion syndrome, which is characterized by intellectual disability (ID), feeding difficulties with growth retardation, dysmorphic features, thin and sparse hair, cleft or high-arched palate, tooth abnormalities and behavioral problems. [10][11][12][13][14][15][16] Subsequently, smaller deletions of 2q33.1 with similar phenotypes have been described (all of them encompassing SATB2), suggesting that haploinsufficiency of this gene might be causative for the core phenotype of the 2q32q33 microdeletion syndrome (see Figure 1). 10,17 Only one patient carrying a nonsense mutation in SATB2 has been reported in the literature to date.…”

“…[10][11][12][13][14][15][16] Subsequently, smaller deletions of 2q33.1 with similar phenotypes have been described (all of them encompassing SATB2), suggesting that haploinsufficiency of this gene might be causative for the core phenotype of the 2q32q33 microdeletion syndrome (see Figure 1). 10,17 Only one patient carrying a nonsense mutation in SATB2 has been reported in the literature to date. 18 This individual was identified by screening of 59 patients with craniofacial dysmorphisms with or without ID.…”

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

“…[6][7][8][9][10] The patient presented with ID, nearly absent speech and suspected hypodontia, the characteristic features of SAS. By molecular genetic investigations we were able to confirm a tandem duplication of exon 3 with different coexpressed transcripts of SATB2.…”

“…[1][2][3][4][5][6] Recently, Döcker et al 7 provided a summary of patients harboring an alteration of this gene in this Journal. They delineated the SATB2 phenotype by comparing four patients with deletions restricted to SATB2, 8,9 two patients with the same heterozygous nonsense variant (c.715C4T, p.R239*) 7,10 and preliminary information on the patient of this report with an intragenic SATB2 duplication, presented at that time in abstract form. 11 They proposed a clinically recognizable SAS (SATB2-associated syndrome), characterized by severe intellectual disability (ID) with no or only limited speech, behavioral problems and abnormalities in craniofacial patterning, namely micrognathia, cleft or high-arched palate, and abnormalities of the teeth such as oligodontia and/or misshaped and crowded teeth.…”