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Updated: Dec 7, 2025
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Published on: August 20, 2019
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
Esther R Berko1, Megan T Cho2, Christine Eng3
1Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
Background:
The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID.
Methods And Results:
In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. HECW2 is an ubiquitin ligase that stabilises p73, a crucial mediator of neurodevelopment and neurogenesis.
Conclusion:
This study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans.
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