ArticleHuman genome variation2026
Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.
Article in Human genome variation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Here we report a case of a Japanese girl with Wiedemann-Steiner syndrome carrying a novel heterozygous frameshift variant of KMT2A (NM_001197104.2:c.10123del, p.Thr3375ProfsTer7). Her clinical features included severe pre- and postnatal growth failure, global developmental delay, hypertrichosis and complete agenesis of the corpus callosum. The identified variant truncates the protein, abolishes the C-terminal SET domain required for histone methyltransferase activity, and is predicted to trigger nonsense-mediated mRNA decay, resulting in KMT2A haploinsufficiency-the primary pathogenic mechanism of Wiedemann-Steiner syndrome. This report documents a previously unreported loss-of-function variant in KMT2A with detailed molecular interpretation and phenotypic characterization, contributing to refinement of the mutational spectrum associated with Wiedemann-Steiner syndrome.
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