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Article

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

Journal of medical genetics - 1 Aug 2023

Maroofian Reza, Efthymiou Stephanie, Suri Mohnish, Rahman Fatima, Zaki Maha S, Maqbool Shazia, Anwa Najwa, Ruiz-Pérez Victor L, Yanovsky-Dagan Shira, Elpeleg Orly, Sudhakar Sniya, Mankad Kshitij, Harel Tamar, Houlden Henry

Abstract excerpt

BACKGROUND: MAPK-activated protein kinase 5 (MAPKAPK5) is an essential enzyme for diverse cellular processes. Dysregulation of the pathways regulated by MAPKAPK enzymes can lead to the development of variable diseases. Recently, homozygous loss-of-function variants in MAPKAPK5 were reported in four patients from three families presenting with a recognisable neurodevelopmental disorder, so-called...

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Identifiers

PMID: 36581449
DOI: 10.1136/jmg-2022-108566
PMCID: PMC10423509

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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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