HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome-Reference-Cited by-同舟云学术

HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Published:2020-05-15 Issue:1 Volume:98 Page:91-98
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Reichert Sara C.¹^ORCID,Li Rachel¹,Turner Scott²,Jaarsveld Richard H.³,Massink Maarten P.G.³,Boogaard Marie‐José H.³,Toro Mireia⁴,Rodríguez‐Palmero Agustí⁵,Fourcade Stéphane⁵⁶,Schlüter Agatha⁵⁶,Planas‐Serra Laura⁵⁶,Pujol Aurora⁵⁶⁷,Iascone Maria⁸,Maitz Silvia⁹,Loong Lucy¹⁰,Stewart Helen¹⁰,De Franco Elisa¹¹,Ellard Sian¹²,Frank Julie¹³,Lewandowski Raymond¹

Affiliation:

1. Department of Human and Molecular Genetics Clinical Genetics Services, VCU Health Richmond Virginia USA

2. Department of Pathology VCU Health Richmond Virginia USA

3. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

4. Pediatric Neurology Department, Vall d'Hebron University Hospital Universitat Autònoma de Barcelona, CIBERER Barcelona Spain

5. Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat Barcelona Catalonia Spain

6. Centre for Biomedical Research on Rare Diseases (CIBERER) Institute Carlos III Madrid Spain

7. Catalan Institution for Research and Advanced Studies (ICREA) Barcelona Spain

8. Laboratorio Genetica Medica, ASST Papa Giovanni XXIII Bergamo Italy

9. Clinical Pediatric Genetic Unit, Pediatric Clinic Fondazione MBBM, San Gerardo Hospital Monza Italy

10. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK

11. College of Medicine and Health University of Exeter Medical School Exeter UK

12. Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust Exeter UK

13. Department of Pediatrics University of Maryland School of Medicine Baltimore Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13765

Reference13 articles.

1. Functional diversity of the hnRNPs: past, present and perspectives

2. Heterogeneous Nuclear Ribonucleoproteins H, H′, and F Are Members of a Ubiquitously Expressed Subfamily of Related but Distinct Proteins Encoded by Genes Mapping to Different Chromosomes

3. A Glycine-Rich Domain of hnRNP H/F Promotes Nucleocytoplasmic Shuttling and Nuclear Import through an Interaction with Transportin 1

4. The hnRNP family: insights into their role in health and disease

5. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

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1. Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions;European Journal of Human Genetics;2023-11-29

2. A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders;Structure;2023-08

3. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder;The American Journal of Human Genetics;2023-08

4. hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders;Journal of Clinical Investigation;2023-07-17

5. A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1;Journal of Clinical Investigation;2023-07-17