DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

doi:10.1038/s41431-024-01597-9

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Article

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

European journal of human genetics : EJHG - 1 Jul 2024

Niceta Marcello, Ciolfi Andrea, Ferilli Marco, Pedace Lucia, Cappelletti Camilla, Nardini Claudia, Hildonen Mathis, Chiriatti Luigi, Miele Evelina, Dentici Maria Lisa, Gnazzo Maria, Cesario Claudia, Pisaneschi Elisa, Baban Anwar, Novelli Antonio, Maitz Silvia, Selicorni Angelo, Squeo Gabriella Maria, Merla Giuseppe, Dallapiccola Bruno, Tumer Zeynep, Digilio Maria Cristina, Priolo Manuela, Tartaglia Marco

Abstract excerpt

Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements of the lysine-specific methyltransferase 2D (KMT2D) gene. While it is often recognizable due to a distinctive gestalt, the disorder is clinically variable, and a phenotypic scoring system has been introduced to help clinicians to...

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PMID: 38528056
DOI: 10.1038/s41431-024-01597-9
PMCID: PMC11220151

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KMT2D

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Source receipt: pubmed, retrieved 7 Sept 2026.

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