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Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

American journal of medical genetics. Part A - 1 Oct 2017

Leduc Magalie S, Chao Hsiao-Tuan, Qu Chunjing, Walkiewicz Magdalena, Xiao Rui, Magoulas Pilar, Pan Shujuan, Beuten Joke, He Weimin, Bernstein Jonathan A, Schaaf Christian P, Scaglia Fernando, Eng Christine M, Yang Yaping

Abstract excerpt

DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report...

Topics

Child
Chromosome Deletion
Female
Haploinsufficiency
Heterogeneous-Nuclear Ribonucleoprotein U
Humans
Infant
Male
Neurodevelopmental Disorders
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28815871
DOI: 10.1002/ajmg.a.38388

Genes

HNRNPU

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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