De novo MAP2K4 variants cause a novel syndromic neurodevelopmental disorder

MAP2K4 (de novo variants, mix of missense and LOF)

De novo variants — novel syndrome

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.

New gene to add to interpretation panels in NDD patients with unexplained genitourinary malformations. To watch for journal publication.

new gene/syndrome +3; de novo +2; 10 individuals +1; preprint −1; diagnostic impact +1; NDD+malformations +1