Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is a rare , multiple congenital anomaly /mental retardation syndrome caused by MLL 2 point mutations and KDM 6 A microdeletions . We screened a large cohort of MLL 2 mutation -negative patients for MLL 2 and KDM 6 A exon (s ) microdeletion and microduplication . Our assays failed to detect such rearrangements in MLL 2 as well as in KDM 6 A gene . These results show that these genomic events are extremely rare in the Kabuki syndrome , substantiating its genetic heterogeneity and the search for additional causative gene (s ).