Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.
Angelo Condell, Elaine Zhang, Tim Sikora et al.
✦ AI-curated · Sources linked
Case in brief
A female patient with a heterozygous de novo deletion affecting the SET gene in the 9q34.11 region presented with atypical Rett syndrome features, including speech delay and facial dysmorphism. Genetic testing confirmed the deletion, and proteomic analysis revealed reduced SET protein levels in fibroblasts. Over 28 years, the patient progressed from having no functional speech to achieving meaningful communication in adulthood, highlighting the importance of early speech therapy.
Diagnostic / clinical pearl
Clinicians should consider SET gene deletions in patients with neurodevelopmental disorders presenting with atypical Rett syndrome features, as this may guide diagnosis and management.
Why it matters
This case underscores the significance of the SET gene in neurodevelopmental disabilities and the potential for improved communication outcomes with early intervention.