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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

2021-01Journal article Open access
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dc.contributor.authorBain, Jennifer M.
dc.contributor.authorThornburg, Olivia
dc.contributor.authorPan, Cheryl
dc.contributor.authorRome-Martin, Donnielle
dc.contributor.authorBoyle, Lia
dc.contributor.authorFan, Xiao
dc.contributor.authorDevinsky, Orrin
dc.contributor.authorFrye, Richard
dc.contributor.authorHamp, Silke
dc.contributor.authorKeator, Cynthia G.
dc.contributor.authorLaMarca, Nicole M.
dc.contributor.authorMaddocks, Alexis B.R.
dc.contributor.authorMadruga-Garrido, Marcos
dc.contributor.authorNiederhoffer, Karen Y.
dc.contributor.authorNovara, Francesca
dc.contributor.authorPeron, Angela
dc.contributor.authorPoole-Di Salvo, Elizabeth
dc.contributor.authorSalazar, Rachel
dc.contributor.authorSkinner, Steven A.
dc.contributor.authorSoares, Gabriela
dc.contributor.authorGoldman, Sylvie
dc.contributor.authorChung, Wendy K.
dc.date.accessioned2023-10-19T10:51:46Z
dc.date.available2023-10-19T10:51:46Z
dc.date.issued2021-01
dc.description.abstractObjective: To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals. Methods: Participants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures. Results: We expand our clinical characterization of HNRNPH2-related disorders to include 33 individuals, aged 2-38 years, both females and males, with 11 different de novo missense variants, most within the nuclear localization signal. The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment. Although rare, we report early stroke and premature death with this condition. Conclusions: The spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.pt_PT
dc.description.sponsorshipGrant support for L. Boyle provided by TL1TR001875.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBain JM, Thornburg O, Pan C, et al. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurol Genet. 2021;7(1):e551. doi:10.1212/NXG.0000000000000551pt_PT
dc.identifier.doi10.1212/NXG.0000000000000551pt_PT
dc.identifier.issn2376-7839
dc.identifier.urihttp://hdl.handle.net/10400.16/2820
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWolters Kluwerpt_PT
dc.relation.publisherversionhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954461/pt_PT
dc.titleDetailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorderpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPagee551pt_PT
oaire.citation.titleNeurology Geneticspt_PT
oaire.citation.volume7pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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