Journal of medical genetics · 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
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Berko Esther R, Cho Megan T, Eng Christine, Shao Yunru, Sweetser David A, Waxler Jessica, Robin Nathaniel H, Brewer Fallon, Donkervoort Sandra, Mohassel Payam, Bönnemann Carsten G, Bialer Martin, Moore Christine, Wolfe Lynne A, Tifft Cynthia J, Shen Yufeng, Retterer Kyle, Millan Francisca, Chung Wendy K
Аннотация
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.
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.