MAP2K4AD de novomedRxivNew gene
De novo MAP2K4 variants cause a novel syndromic neurodevelopmental disorder
Consortium international — medRxiv preprint
Relevance score
8/10
Disease / domain
Novel syndromic NDD + congenital malformations (mostly genitourinary) + epilepsy
Week
22 April 2026
Variant / mechanism
MAP2K4 (de novo variants, mix of missense and LOF)
De novo variants — novel syndrome
Summary
Report of 10 individuals carrying de novo (or presumed de novo) variants in MAP2K4 defining a novel syndromic NDD. The picture is dominated by developmental delay or intellectual disability, epilepsy, and variable congenital malformations — most often genitourinary.
Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.
Analysis
New gene to add to interpretation panels in NDD patients with unexplained genitourinary malformations. To watch for journal publication.
Why this score?
new gene/syndrome +3; de novo +2; 10 individuals +1; preprint −1; diagnostic impact +1; NDD+malformations +1
Keywords
MAP2K4NDDGU malformationsepilepsynovel syndrome