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

[kabuki syndrome]

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 MLL 2 is identified . Recently , eight patients with Kabuki syndrome and a mutation in KDM 6 A were described . In this report , we describe two brothers with a mutation in KDM 6 A 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 KDM 6 A .