Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/2820 |
Resumo: | Objective: 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. |
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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental DisorderObjective: 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.Grant support for L. Boyle provided by TL1TR001875.Wolters KluwerRepositório Científico do Centro Hospitalar Universitário de Santo AntónioBain, Jennifer M.Thornburg, OliviaPan, CherylRome-Martin, DonnielleBoyle, LiaFan, XiaoDevinsky, OrrinFrye, RichardHamp, SilkeKeator, Cynthia G.LaMarca, Nicole M.Maddocks, Alexis B.R.Madruga-Garrido, MarcosNiederhoffer, Karen Y.Novara, FrancescaPeron, AngelaPoole-Di Salvo, ElizabethSalazar, RachelSkinner, Steven A.Soares, GabrielaGoldman, SylvieChung, Wendy K.2023-10-19T10:51:46Z2021-012021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2820engBain 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.00000000000005512376-783910.1212/NXG.0000000000000551info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:02:40Zoai:repositorio.chporto.pt:10400.16/2820Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:59.697072Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
title |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
spellingShingle |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder Bain, Jennifer M. |
title_short |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
title_full |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
title_fullStr |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
title_full_unstemmed |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
title_sort |
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder |
author |
Bain, Jennifer M. |
author_facet |
Bain, Jennifer M. Thornburg, Olivia Pan, Cheryl Rome-Martin, Donnielle Boyle, Lia Fan, Xiao Devinsky, Orrin Frye, Richard Hamp, Silke Keator, Cynthia G. LaMarca, Nicole M. Maddocks, Alexis B.R. Madruga-Garrido, Marcos Niederhoffer, Karen Y. Novara, Francesca Peron, Angela Poole-Di Salvo, Elizabeth Salazar, Rachel Skinner, Steven A. Soares, Gabriela Goldman, Sylvie Chung, Wendy K. |
author_role |
author |
author2 |
Thornburg, Olivia Pan, Cheryl Rome-Martin, Donnielle Boyle, Lia Fan, Xiao Devinsky, Orrin Frye, Richard Hamp, Silke Keator, Cynthia G. LaMarca, Nicole M. Maddocks, Alexis B.R. Madruga-Garrido, Marcos Niederhoffer, Karen Y. Novara, Francesca Peron, Angela Poole-Di Salvo, Elizabeth Salazar, Rachel Skinner, Steven A. Soares, Gabriela Goldman, Sylvie Chung, Wendy K. |
author2_role |
author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Bain, Jennifer M. Thornburg, Olivia Pan, Cheryl Rome-Martin, Donnielle Boyle, Lia Fan, Xiao Devinsky, Orrin Frye, Richard Hamp, Silke Keator, Cynthia G. LaMarca, Nicole M. Maddocks, Alexis B.R. Madruga-Garrido, Marcos Niederhoffer, Karen Y. Novara, Francesca Peron, Angela Poole-Di Salvo, Elizabeth Salazar, Rachel Skinner, Steven A. Soares, Gabriela Goldman, Sylvie Chung, Wendy K. |
description |
Objective: 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. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01 2021-01-01T00:00:00Z 2023-10-19T10:51:46Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2820 |
url |
http://hdl.handle.net/10400.16/2820 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Bain 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.0000000000000551 2376-7839 10.1212/NXG.0000000000000551 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Wolters Kluwer |
publisher.none.fl_str_mv |
Wolters Kluwer |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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