Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.
Marco Cassone, Antonino Moschella, Davide Mei et al.
✦ AI-curated · Sources linked
Case in brief
A male child presented with a complex phenotype including intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations. Exome sequencing revealed three rare genetic variants: a de novo frameshift variant in SETD5, a de novo missense variant in NEDD4L, and a maternally inherited nonsense variant in TBL1X. The case underscores the significance of multilocus genomic variation in diverse neurodevelopmental disorders.
What made this case unusual
This case uniquely combines multiple genetic variants associated with distinct clinical features, illustrating a blended phenotype that has not been previously reported.
Diagnostic / clinical pearl
Clinicians should consider multilocus genomic variations when evaluating patients with heterogeneous neurodevelopmental disorders, as multiple genetic factors may contribute to the clinical presentation.
Why it matters
Understanding the interplay of different genetic variants can enhance diagnostic accuracy and inform management strategies for complex neurodevelopmental conditions.