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Article

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

American journal of medical genetics. Part A - 1 May 2020

Baldridge Dustin, Spillmann Rebecca C, Wegner Daniel J, Wambach Jennifer A, White Frances V, Sisco Kathleen, Toler Tomi L, Dickson Patricia I, Cole F Sessions, Shashi Vandana, Grange Dorothy K

Abstract excerpt

Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features including arched eyebrows, long palpebral fissures with eversion of the lower lid, large protuberant ears, and fetal finger pads. Most disease-causing variants identified to date are putative loss-of-function alleles, although 15-20% of cases...

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PMID: 32083401
DOI: 10.1002/ajmg.a.61518
PMCID: PMC7295006

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