Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and 
mental retardation. Exonic deletions, disrupting the lysine (K)-specific 
demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. Here, we 
report a de novo 227-kb deletion in chromosome Xp11.3 of a 7-year-old Chinese 
girl with KS. Besides the symptoms of KS, the patient also presented with skin 
allergic manifestations, which were considered to be a new, rare feature of the 
phenotypic spectrum. The deletion includes the upstream region and exons 1-2 of 
KDM6A and potentially causes haploinsuffiency of the gene. We also discuss the 
mutation spectrum of KDM6A and clinical variability of patients with KDM6A 
deletion through a literature review. © 2016 Wiley Periodicals, Inc.