Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Kabuki syndrome 2

Kabuki syndrome 2 is an x-linked dominant disorder caused by mutations of the KDM6A gene. Kabuki syndrome is characterized by typical facial deformities, skeletal abnormalities, dwarfism, and mental retardation.

Systematic

Kabuki syndrome
KDM6A
Kabuki syndrome 1
Kabuki syndrome 2
KDM6A

References:

1.

Lederer D et al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

external link
2.

Miyake N et al. (2013) KDM6A point mutations cause Kabuki syndrome.

external link
3.

Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.

external link
4.

Micale L et al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

external link
5.

Lederer D et al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

external link
6.

Van Laarhoven PM et al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

external link
7.

Niikawa N et al. (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

external link
8.

OMIM.ORG article

Omim 300867 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits