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Article

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

Journal of human genetics - 1 Aug 2023

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, Nabais Sá Maria João, Quijada-Fraile Pilar, Martínez-Azorín Francisco

Abstract excerpt

We report a 9-year-old Spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalities of the brain morphology, including cerebellar atrophy. Whole-exome sequencing (WES) uncovered two novel de novo variants, a hemizygous variant in CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) and a heterozygous variant in EEF2 (Eukaryotic Translation Elongation Factor 2). CASK...

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Identifiers

PMID: 37072624
DOI: 10.1038/s10038-023-01150-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.PMID 37072624Read ↗

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