Abstract: Objective To investigate the pathogenic gene mutations and clinical characteristics of type 2 Kabuki syndrome by analyzing a patient with novel splicing KDM6A gene mutation. Methods Clinical features, laboratory data and radiologic manifestations were collected. The whole exon was sequenced. Results 1)Patient presented with typical facial, skeletal and dermatoglyphic abnormalities, and mild intellectual impairment. 2)The main clinical manifestations were central precocious puberty and short stature. 3)Whole exon sequencing peripheral lymphocytes of the patient and of her parents identified a denovo splicing mutation in KDM6A gene. Conclusions KDM6A mutation may cause Kabuki syndrome, central precocious puberty and dwarfism. This case expands the understanding of clinical manifestations and gene mutation in Kabuki syndrome.

Key words: Kabuki syndrome, KDM6A, central precocious puberty, splicing mutation, dwarfism