Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants-Reference-Cited by-同舟云学术

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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Published:2022-11-25 Issue:2 Volume:31 Page:202-215
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Leonardi Emanuela^ORCID,Aspromonte Maria Cristina^ORCID,Drongitis Denise,Bettella Elisa,Verrillo Lucia,Polli Roberta,McEntagart Meriel,Licchetta Laura,Dilena Robertino,D’Arrigo Stefano,Ciaccio Claudia,Esposito Silvia,Leuzzi Vincenzo,Torella Annalaura,Baldo Demetrio,Lonardo Fortunato,Bonato Giulia,Pellegrin Serena^ORCID,Stanzial Franco,Posmyk Renata,Kaczorowska Ewa,Carecchio Miryam,Gos Monika,Rzońca-Niewczas Sylwia^ORCID,Miano Maria Giuseppina^ORCID,Murgia Alessandra^ORCID

Funder

Italian Ministry of Health Young Investigator

Maria Rosaria Maglione Onlus Foundation

Fondazione Pierfranco e Luisa Mariani

Fondazione Telethon

Italian Ministry of Economic Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01233-4.pdf

Reference50 articles.

1. Iwase S, Lan F, Bayliss P, de la Torre-Ubieta L, Huarte M, Qi HH, et al. The X-Linked Mental Retardation Gene SMCX/JARID1C Defines a Family of Histone H3 Lysine 4 Demethylases. Cell. 2007;128:1077–88.

2. Claes S, Devriendt K, Van Goethem G, Roelen L, Meireleire J, Raeymaekers P, et al. Novel syndromic form of X-linked complicated spastic paraplegia. Am J Med Genet. 2000;94:1–4.

3. Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, et al. Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation. Am J Hum Genet. 2005;76:227–36.

4. Hatch HAM, Secombe J. Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome. FEBS J. 2021 https://doi.org/10.1111/febs.16204. Epub ahead of print.

5. Adegbola A, Gao H, Sommer S, Browning M. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). Am J Med Genet Part A. 2008;146A:505–11.

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