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Article

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Ophthalmic genetics - 1 Oct 2025

López-Font Francisco J, De Arrigunaga Sofia, Santos da Cruz Natasha F, Fan Jason C, Shah Serena M, Hudson Julia L, Borja Nicholas A, Barbouth Deborah S, Berrocal Audina M

Abstract excerpt

BACKGROUND: Kabuki Syndrome (KS) is a rare multiple congenital anomaly syndrome originally described in 1981 by Japanese clinicians. KS belongs to the family of chromatinopathies, a group of disorders characterized by abnormalities in chromatin regulation due to germline mutations in the KMT2D or KDM6A genes. KS is characterized by five cardinal manifestations: (1) postnatal growth deficiency, (2) skeletal...

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Source

Identifiers

PMID: 40438941
DOI: 10.1080/13816810.2025.2505913

Genes

KMT2D
KDM6A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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