Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord-Reference-Cited by-同舟云学术

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

Published:2022-10-31 Issue:2 Volume:103 Page:167-178
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Wongkittichote Parith¹,Choi Tae‐Ik²³,Kim Oc‐Hee²³,Riley Kacie⁴,Koeberl Dwight⁴⁵,Narayanan Vinodh⁶^ORCID,Ramsey Keri⁶,Balak Chris⁶,Schwartz Charles E.⁷^ORCID,Cueto‐Gonzalez Anna Maria⁸⁹,Casadesus Francina Munell¹⁰,Kim Cheol‐Hee²,Shinawi Marwan S.¹^ORCID

Affiliation:

1. Division of Genetics and Genomic Medicine, Department of Pediatrics St. Louis Children's Hospital, Washington University School of Medicine St. Louis Missouri USA

2. Department of Biology Chungnam National University Daejeon South Korea

3. Zebrafish Center for Disease Modeling Daejeon South Korea

4. Division of Medical Genetics, Department of Pediatrics Duke University Medical School Durham North Carolina USA

5. Department of Molecular Genetics and Microbiology Duke University North Carolina USA

6. Center for Rare Childhood Disorders Translational Genomics Research Institute Phoenix Arizona USA

7. Greenwood Genetic Center Greenwood South Carolina USA

8. Department of Clinical and Molecular Genetics Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

9. Medicine Genetics Group, Vall Hebron Research Institute (VHIR) Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona Barcelona Spain

10. Department of Pediatric Neurology Hospital Vall d'Hebron Barcelona Spain

Funder

Ministry of Science and ICT, South Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14248

Reference19 articles.

1. Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation

2. ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling

3. KimJ ChoiTI ParkS KimMH KimCH LeeS. Rnf220cooperates with Zc4h2 to specify spinal progenitor domainsdevelopment.2018;145:17.

4. Rnf220/Zc4h2‐mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development;Song NN;Development,2020

5. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

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