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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

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.
J Med Genet; 54(2): 84-86, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27389779

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.
Selo DaSilva