Associated disorders

The HNRNPU gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) and autosomal dominant mental retardation.

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Pathogenic variants in the HNRNPU gene are a rare cause of clinical cases of early infantile epileptic encephalopathy (EIEE).

The HNRNPU gene encodes a nuclear RNA-binding protein that helps to retain RNA in the nucleus. It is also involved in X-inactivation in females by interacting both with the Xist long non-coding RNA and with compacted DNA.

  1. Epi4K, Consortium, et al. De novo mutations in epileptic encephalopathies. Nature. 2013; 501(7466):217-21. PMID: 23934111
  2. Chaudhury, A, et al. Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles. RNA. 2010; 16(8):1449-62. PMID: 20584894
  3. Hasegawa, Y, et al. The matrix protein hnRNP U is required for chromosomal localization of Xist RNA. Dev. Cell. 2010; 19(3):469-76. PMID: 20833368
  4. Zhu, X, et al. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet. Med. 2015; :None. PMID: 25590979
  5. Du X, et al. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Med Genet. 2014 May 29;15:62. PMID: 24885232
  6. Selmer KK, et al. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures. Eur J Med Genet. 2012 Dec;55(12):715-8. PMID: 22975012
  7. Herzer H, Rabending G. [Psychiatric disorders in epilepsy--1: Psychiatric classification]. Z Arztl Fortbild (Jena). 1990;84(15):753-5. PMID: 2267813
  8. Ballif BC, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet. 2012 Jan;131(1):145-56. PMID: 21800092
  9. Thierry G, et al. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A. 2012 Jul;158A(7):1633-40. PMID: 22678713
  10. Hamdan FF, et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014 Oct 30;10(10):e1004772. PMID: 25356899

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
HNRNPU NM_031844.2