Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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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.

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8.

OMIM.ORG article

Omim 300867 [^]
Update: April 29, 2019