DMAP1 variants cause a novel syndromic neurodevelopmental disorder
A new study published in The Journal of Clinical Investigation presented biallelic variants in the DMAP1 gene, encoding a protein with essential roles in chromatin remodelling processes such as DNA methylation, histone acetylation and deposition, and DNA damage repair. The variants were found among 20 individuals from 16 unrelated families, suffering from a syndromic neurodevelopmental disorder characterised by global developmental delay, intellectual disability, autistic features, seizures, hypotonia, feeding difficulty, and craniofacial dysmorphic features. Various analyses highlighted the essential role of the DMAP1 gene in epigenetic regulation, expanding the short list of recessive disease-causing genes within the epigenetic machinery.
- J Clin Invest. 2026 Jun 11;136(15):e198229