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

作者：Priolo Manuela; Micale Lucia; Augello Bartolomeo; Fusco Carmela; Zucchetti Federica; Prontera Paolo; Paduano Valeria; Biamino Elisa; Selicorni Angelo; Mammi Corrado; Lagana Carmelo; Zelante Leopoldo; Merla Giuseppe^*

来源：Molecular Genetics and Metabolism, 2012, 107(3): 627-629.

DOI：10.1016/j.ymgme.2012.06.019

• Kabuki syndrome
• MLL2
• KDM6A
• MLPA
• qPCR

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 KDM6Aexon(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 the Kabuki syndrome, substantiating its genetic heterogeneity and the search for additional causative gene(s).

• 出版日期2012-11