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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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SATB2-associated syndrome presenting with Rett-like phenotypes.

J S Lee¹, Y Yoo², B C Lim³

¹Department of Pediatrics, Gachon University Gil Medical Center, Incheon, South Korea.

Clinical Genetics

|November 25, 2015

Summary

SATB2-associated syndrome (SAS) can present with Rett-like phenotypes, not just typical features like cleft palate. Identifying novel SATB2 variants expands understanding of this rare genetic disorder.

Keywords:

Rett like SATB2 SATB2-associated syndrome intellectual disability psychomotor retardation whole-exome sequencing

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Area of Science:

Genetics
Neurodevelopmental Disorders
Syndromology

Background:

SATB2-associated syndrome (SAS) is a recently defined genetic disorder linked to the SATB2 gene, primarily known for intellectual disability, speech delay, and craniofacial anomalies.
Initial research connected SATB2 mutations to isolated cleft palate, leading to the characterization of SAS with specific developmental and physical features.

Observation:

This study reports two unrelated patients with severe psychomotor retardation and Rett-like phenotypes, presenting novel sequence variants in the SATB2 gene.
Whole-exome sequencing identified a de novo missense variant (p.Glu396Gln) in one patient, while targeted sequencing revealed a nonsense variant (p.Arg459*) in the second patient.

Findings:

The identified SATB2 variants expand the known clinical and genetic spectrum of SATB2-associated syndrome.
The findings suggest that SAS should be considered in individuals with psychomotor retardation or Rett-like phenotypes, even in the absence of classic SAS features like cleft palate.

Implications:

These discoveries broaden the diagnostic criteria for SATB2-associated syndrome.
Clinicians should consider SATB2 gene analysis in a wider range of neurodevelopmental and neurological presentations, enhancing diagnostic yield for rare genetic conditions.