Kabuki syndrome is a rare multisystem disorder characterized by distinct 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. Pathogenic variants in KMT2D were reported in the majority of patients with Kabuki syndrome. KMT2D encodes a histone H3 lysine 4 (H3K4) methyltransferase and plays a role in the epigenic control of active chromatin states. KMT2D-related Kabuki syndrome is an autosomal dominant condition; most cases appear to be de novo, but familial cases have been reported. Pathogenic variants in KDM6A have also been reported in patients with Kabuki syndrome-2. KDM6A and KMT2D act together in the epigenetic control of transcriptionally active chromatin. KMD6A-related Kabuki syndrome is an X-linked condition and to date all reported cases were a result of de novo changes. This panel includes sequence and deletion/duplication analysis of both genes.
TAT
6 weeks
CPT Code
81479
Test Code
1327
Test Methods
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents
