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Article

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

Molecular genetics & genomic medicine - 1 Feb 2020

Luperchio Teresa Romeo, Applegate Carolyn D, Bodamer Olaf, Bjornsson Hans Tomas

Abstract excerpt

We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.

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Identifiers

PMID: 31814321
DOI: 10.1002/mgg3.1072
PMCID: PMC7005614

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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