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Article

Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.

American journal of medical genetics. Part A - 1 Jul 2022

Montano Carolina, Britton Jacquelyn F, Harris Jacqueline R, Kerkhof Jennifer, Barnes Benjamin T, Lee Jennifer A, Sadikovic Bekim, Sobreira Nara, Fahrner Jill A

Abstract excerpt

Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and KDM6A are responsible for Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), respectively. In addition, 11 cases of KS1 caused by mosaic variants in KMT2D have been...

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PMID: 35384273
DOI: 10.1002/ajmg.a.62754
PMCID: PMC9321966

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