Article
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
Molecular genetics and metabolism - 1 Nov 2012
Priolo Manuela, Micale Lucia, Augello Bartolomeo, Fusco Carmela, Zucchetti Federica, Prontera Paolo, Paduano Valeria, Biamino Elisa, Selicorni Angelo, Mammì Corrado, Laganà Carmelo, Zelante Leopoldo, Merla Giuseppe
Abstract excerpt
Kabuki syndrome is a rare, multiple congenital anomaly/mental retardation syndrome caused by MLL2 point mutations and KDM6A microdeletions. We screened a large cohort of MLL2 mutation-negative patients for MLL2 and KDM6A exon(s) microdeletion and microduplication. Our assays failed to detect such rearrangements in MLL2 as well as in KDM6A gene. These results show that these genomic events are extremely rare in...
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