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Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

Gene - 20 Mar 2020

Yap Chui-Sun, Jamuar Saumya Shekhar, Lai Angeline H M, Tan Ee-Shien, Ng Ivy, Ting Teck Wah, Tan Ene-Choo

Abstract excerpt

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D (KMT2D) and lysine-specific demethylase 6A (KDM6A) genes are the major causes of KS. The two genes encode different histone-modifying enzymes that are found in the...

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PMID: 31935506
DOI: 10.1016/j.gene.2020.144360

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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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