Fig. 1

Clinical information and mutation analysis of the SAS patient and her parents. a Pedigree of the patient’s family. Arrow indicates the patient. The patient’s parents and brother are all healthy individuals. b Intraoral photos of the patient. Several permanent teeth are congenitally missing. c Abnormal electroencephalogram(EEG) of the patient. d Sanger chromatograms of the patient and her parents. A novel frameshift mutation of SATB2 (c. 376_378delinsTT) was identified in the patient. The genotype of her parents is normal. e Three-dimensional models of wild-type and mutant SATB2. f Schematic diagram of wild-type and mutant SATB2 protein with domains according to Pfam database (http://pfam.xfam.org/). The mutant protein synthesis was blocked at the ubiquitin-like oligomerization domain (ULD) g Construction of wild-type and mutant SATB2 expression vectors