A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2-Reference-Cited by-同舟云学术

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Published:2023-04-18 Issue:8 Volume:68 Page:543-550
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Rodríguez-García María Elena,Cotrina-Vinagre Francisco Javier,Olson Alexandra N.,Sánchez-Calvin María Teresa,de Aragón Ana Martínez,de Las Heras Rogelio Simón,Dinman Jonathan D.,de Vries Bert B. A.^ORCID,Nabais Sá Maria João,Quijada-Fraile Pilar,Martínez-Azorín Francisco^ORCID

Funder

Ministry of Economy and Competitiveness | Instituto de Salud Carlos III

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-023-01150-4.pdf

Reference28 articles.

1. Hata Y, Butz S, Sudhof TC. CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins. J Neurosci. 1996;16:2488–94.

2. Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008;40:1065–7.

3. Piluso G, D’Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, et al. A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet. 2009;84:162–77.