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Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature
Author(s) -
Taylor James,
Spiller Michael,
Ranguin Kara,
Vitobello Antonio,
Philippe Christophe,
Bruel AngeLine,
Cappuccio Gerarda,
BrunettiPierri Nicola,
Willems Marjolaine,
Isidor Bertrand,
Park Kristen,
Balasubramanian Meena
Publication year - 2022
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62677
Subject(s) - phenotype , hypotonia , intellectual disability , neurodevelopmental disorder , corpus callosum , ventriculomegaly , global developmental delay , epilepsy , psychology , corpus callosum agenesis , neuroscience , medicine , genetics , autism , psychiatry , biology , pediatrics , gene , pregnancy , fetus
Abstract Pathogenic variants in heterogeneous nuclear ribonucleoprotein U ( HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were found to harbor de novo loss‐of‐function variants except for one individual where the inheritance could not be determined, as a parent was unavailable for testing. All patients had seizures which started in early childhood, global developmental delay, intellectual disability, and dysmorphic features. In addition, hypotonia, behavioral abnormalities (such as autistic features, aggression, anxiety, and obsessive–compulsive behaviors), and cardiac (septal defects) and/or brain abnormalities (ventriculomegaly and corpus callosum thinning/agenesis) were frequently observed. We have noted four recurrent variants in the literature (c.1089G>A p.(Trp363*), c.706_707del p.(Glu236Thrfs*6), c.847_857del p.(Phe283Serfs*5), and c.1681dels p.(Gln561Serfs*45)).