Patients with SATB2-associated syndrome exhibiting multiple odontomas

Area of Science:

• Genetics
• Rare Diseases
• Oral Medicine

Background:

• Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a genetic disorder characterized by intellectual disability and craniofacial abnormalities.
• Dental abnormalities are recognized features of SAS, but specific complex dental findings have not been extensively documented.

Purpose of the Study:

• To report three unrelated patients with SAS presenting with multiple odontomas, a rare dental anomaly.
• To investigate the genetic basis of SAS in these patients and explore the relationship between SATB2 mutations and dental phenotypes.

Main Methods:

• Whole-exome sequencing and targeted amplicon sequencing were performed to identify mutations in the SATB2 gene.
• Clinical data and dental imaging were analyzed to characterize the phenotype.
• SATB2 expression levels were assessed in tooth mesenchymal cells.

Main Results:

• Three patients with SAS were identified, all exhibiting multiple odontomas.
• De novo heterozygous mutations in SATB2 (splice-site, nonsense, and frameshift) were found in the patients.
• Reduced SATB2 expression was observed in tooth mesenchymal cells from one patient.
• Multiple odontomas were not previously recognized as a SAS phenotype.

Conclusions:

• Multiple odontomas should be considered a potential, albeit rare, manifestation of SATB2-associated syndrome.
• Genetic analysis confirmed de novo SATB2 mutations in all reported cases.
• This finding expands the known spectrum of clinical features associated with SAS.