ObjectiveTo expand the clinical phenotype of the X-linkedHNRNPH2-related neurodevelopmentaldisorder in 33 individuals.MethodsParticipants were diagnosed with pathogenic or likely pathogenic variants inHNRNPH2usingAmerican College of Medical Genetics and Genomics/Association of Molecular Pathologycriteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinicaldata were collected by retrospective chart review and caregiver report including standardizedparent report measures.ResultsWe expand our clinical characterization ofHNRNPH2-related disorders to include 33 indi-viduals, 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 includedevelopmental delay/intellectual disability, severe language impairment, motor problems,growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epi-lepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual im-pairment. Although rare, we report early stroke and premature death with this condition.ConclusionsThe spectrum of X-linkedHNRNPH2-related disorders continues to expand as the allelicspectrum and identification of affected males increases.

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder / J.M. Bain, O. Thornburg, C. Pan, D. Rome-Martin, L. Boyle, X. Fan, O. Devinsky, R. Frye, S. Hamp, C.G. Keator, N.M. Lamarca, A.B.R. Maddocks, M. Madruga-Garrido, K.Y. Niederhoffer, F. Novara, A. Peron, E. Poole-Di Salvo, R. Salazar, S.A. Skinner, G. Soares, S. Goldman, W.K. Chung. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - 7:1(2021 Feb). [10.1212/NXG.0000000000000551]

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

A. Peron;
2021

Abstract

ObjectiveTo expand the clinical phenotype of the X-linkedHNRNPH2-related neurodevelopmentaldisorder in 33 individuals.MethodsParticipants were diagnosed with pathogenic or likely pathogenic variants inHNRNPH2usingAmerican College of Medical Genetics and Genomics/Association of Molecular Pathologycriteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinicaldata were collected by retrospective chart review and caregiver report including standardizedparent report measures.ResultsWe expand our clinical characterization ofHNRNPH2-related disorders to include 33 indi-viduals, 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 includedevelopmental delay/intellectual disability, severe language impairment, motor problems,growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epi-lepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual im-pairment. Although rare, we report early stroke and premature death with this condition.ConclusionsThe spectrum of X-linkedHNRNPH2-related disorders continues to expand as the allelicspectrum and identification of affected males increases.
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/812952
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