Academic Learning Profiles Across Disorders of <i>KMT2</i> Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann–Steiner and ODLURO Syndromes
Study results support recent publications on the overlapping cognitive profile in WSS and KS, specifically with distinct deficits in visual spatial processing. In contrast, ODLURO is associated with more generalised cognitive difficulties that warrant further investigation. Disruption of KMT2 genes may have common and individual effects on neurodevelopment that necessitate cross-syndrome research to illuminate gene-brain-behaviour relationships.
Authors
- Rowena Ng (ORCID: https://orcid.org/0000-0001-7193-4300)
- Jacqueline Harris (ORCID: https://orcid.org/0000-0001-8465-2142)
- Anne O’Donnell‐Luria (ORCID: https://orcid.org/0000-0001-6418-9592)
- Lauren Meier
Institutions
- Broad Institute (US)
- Boston Children's Hospital (US)
- Kennedy Krieger Institute (US)
- Harvard University (US)
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
Publication Details
- Journal
- Journal of Intellectual Disability Research
- Published
- 2025-08-05
- DOI
- https://doi.org/10.1111/jir.70017
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Manton Center for Orphan Disease Research, Boston Children's Hospital
- National Institute of Child Health and Human Development