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Article

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Clinical genetics - 1 Oct 2018

Pilch Jacek, Koppolu Agnieszka A, Walczak Anna, Murcia Pienkowski Victor A, Biernacka Anna, Skiba Paweł, Machnik-Broncel Joanna, Gasperowicz Piotr, Kosińska Joanna, Rydzanicz Małgorzata, Emich-Widera Ewa, Płoski Rafał

Abstract excerpt

The HNRNPH2-associated disease (mental retardation, X-linked, syndromic, Bain type [MRXSB, MIM #300986]) is caused by de novo mutations in the X-linked HNRNPH2 gene. MRXSB has been described in six female patients with dysmorphy, developmental delay, intellectual disability, autism, hypotonia and seizures. The reported HNRNPH2 mutations were clustered in the small domain encoding nuclear localization signal; in...

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Identifiers

PMID: 29938792
DOI: 10.1111/cge.13410

Genes

HNRNPH2
HNRNPH1

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.PMID 29938792Read ↗

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.Semantic proximity Read ↗

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Semantic proximity Read ↗

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.Semantic proximity Read ↗

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.Semantic proximity Read ↗

A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.Semantic proximity Read ↗

A murine model of hnRNPH2-related neurodevelopmental disorder recapitulates clinical features of human disease and reveals a mechanism for genetic compensation of <i>HNRNPH2</i>Semantic proximity Read ↗

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.Semantic proximity Read ↗

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.Semantic proximity Read ↗

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.Semantic proximity Read ↗

A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disordersSemantic proximity Read ↗

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.Semantic proximity Read ↗

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