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Article

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

American journal of human genetics - 1 Sept 2016

Bain Jennifer M, Cho Megan T, Telegrafi Aida, Wilson Ashley, Brooks Susan, Botti Christina, Gowans Gordon, Autullo Leigh Anne, Krishnamurthy Vidya, Willing Marcia C, Toler Tomi L, Ben-Zev Bruria, Elpeleg Orly, Shen Yufeng, Retterer Kyle, Monaghan Kristin G, Chung Wendy K

Abstract excerpt

Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome. Many of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27545675
DOI: 10.1016/j.ajhg.2016.06.028
PMCID: PMC5011042

Genes

HNRNPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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