A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

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. © 2014 Wiley Periodicals, Inc.