ANALYSIS OF THE KMT2D AND KDM6A GENES IN KABUKI SYNDROME
Kabuki syndrome is a rare congenital disorder with a characteristic facial appearance (long palpebral fissures, long and dense eyelashes and arched eyebrows, short nasal columella with a depressed nasal tip, prominent ears and a mouth with a thin upper lip and a full lower lip), poor postnatal growth, short stature, variable congenital malformations (cleft palate and cardiovascular defects) learning difficulties, seizures and neonatal hypoglycaemia, hypothyroidism and immune dysfunction (Makrythanasis et al 2013 Clin Genet 84:539-545, Banka et al 2015 Clin Genet 87:252-258, Lintas et al 2017 Clin Genet 1-13).
Autosomal dominant Kabuki syndrome as a result of heterozygous disease-causing variants in the KMT2D gene, account for ~56-75% of cases.
Disease-causing variants in KDM6A result in an X-linked dominant form of Kabuki syndrome and account for ~3-8% of cases.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.