Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic loss-of-function of the chromatin remodeler *DMAP1*

This Journal of Clinical Investigation study identifies biallelic inactivating variants in DMAP1, encoding a chromatin remodeler involved in DNA methylation and histone modification, as the cause of a novel syndromic neurodevelopmental disorder. Functional data support variant pathogenicity across multiple independent families.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Adding DMAP1 to the TND genetic landscape reinforces the key role of chromatin remodeling genes in this spectrum, with direct implications for diagnostic panel expansion.

Clinical impact: 3/3 · Evidence strength: 3/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 10/10