Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kabuki-Syndrom 2

Das Kabuki-Syndrom 2 ist eine x-chromosomal dominante Erkrankung, die durch Mutationen im KDM6A-Gen hervorgerufen wird. Das Kabuki-Syndrom ist charakterisiert durch typische Veränderungen des Gesichtsschädels und des Skelettes mit Kleinwuchs und mentaler Retardierung.

Gliederung

Kabuki-Syndrom
KDM6A
Kabuki-Syndrom 1
Kabuki-Syndrom 2
KDM6A

Referenzen:

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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