The University of Chicago Genetic Services Introduces New Testing for Kabuki syndrome
Patients with Kabuki syndrome, also called Kabuki make-up syndrome (KMS) have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes. Other features include joint laxity, dental abnormalities, finger-tip pads, and renal/urinary tract anomalies.
In addition to offering sequencing and deletion/duplication analysis for MLL2, the University of Chicago Genetic Services Introduces sequencing and deletion/duplication analysis for KDM6A
Mutations of the MLL2 (mixed lineage leukemia 2) [OMIM #602113] gene were reported in 35/53 (66%) patients with Kabuki syndrome. While, mutations of the KDM6A (lysine specific demethylase 6A) [OMIM#300128] gene were reported in 3/32 (9%) patients with Kabuki syndrome that were negative for mutations in the MLL2 gene.