Expanding Clinical and Genetic Landscape of <i>SATB2</i>-Associated Syndrome.

ABSTRACT:

Background

SATB2-associated syndrome (SAS), also known as Glass syndrome, is a neurodevelopmental disorder (NDD) characterized by intellectual disability, developmental delay, absent or limited speech, and distinctive craniofacial and dental anomalies. It is caused by autosomal dominant pathogenic variants in the SATB2 gene, which plays a crucial role in brain, dental, and jaw development. Due to its variable phenotype, clinical diagnosis can be challenging, necessitating genetic confirmation.

Methods

We present six new cases of SAS with SATB2 germline variants identified through next generation sequencing (NGS) technologies, expanding the known genetic and clinical spectrum of the syndrome. Detailed clinical phenotyping was performed for all patients.

SUBMITTER: Pullano V 

PROVIDER: S-EPMC12563916 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature