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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Ghayda M Mirzaa1,2,3, Keqin Yan4, Raissa Relator5

  • 1Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.

Nature Communications
|November 10, 2025
PubMed
Summary

Genetic variants in the SMARCA1 gene cause neurodevelopmental disorders (NDDs) with diverse symptoms. This study identifies SMARCA1 variants in 35 individuals, highlighting macrocephaly and unique methylation patterns in affected patients.

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