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  • Title: A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
    Author: Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I.
    Journal: Am J Med Genet A; 2014 May; 164A(5):1289-92. PubMed ID: 24664873.
    Abstract:
    Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A.
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