Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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DOI: 10.1038/s41431-020-0679-8
Abstract: Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More… read more here.
Keywords: phenotype; rubinstein taybi; wiedemann steiner; kmt2a variants ... See more keywords
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
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DOI: 10.1101/2022.01.03.474770
Abstract: Wiedemann-Steiner syndrome (WSS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WSS, we examined the spatial distribution… read more here.
Keywords: cxxc domain; steiner syndrome; wiedemann steiner; domain ... See more keywords
Severe Hip Dysplasia in Wiedemann-Steiner Syndrome Treated with Bilateral Bernese Periacetabular Osteotomy
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DOI: 10.2106/jbjs.cc.21.00623
Abstract: Case: Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with many phenotypic characteristics, including multiple orthopaedic manifestations. Of these, symptomatic significant hip dysplasia has been variably noted. Nonetheless, few reports detail surgical treatment for… read more here.
Keywords: hip dysplasia; steiner syndrome; hip; wiedemann steiner ... See more keywords