The authors declare no conflict of interest.
MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome
Version of Record online: 18 SEP 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 5, pages 467–471, May 2013
How to Cite
MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome., , , , , , , , , , .
- Issue online: 5 APR 2013
- Version of Record online: 18 SEP 2012
- Accepted manuscript online: 17 AUG 2012 10:58AM EST
- Manuscript Revised: 13 AUG 2012
- Manuscript Accepted: 13 AUG 2012
- Manuscript Received: 28 JUN 2012
- intragenic deletion duplication;
- Kabuki syndrome;
Kabuki syndrome (KS) is a rare multi-system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning disability. It is caused by MLL2 point mutations in the majority of the cases and, rarely by deletions involving KDM6A. Nearly one third of cases remain unsolved. Here, we expand the known genetic basis of KS by presenting five typical patients with the condition, all of whom have novel MLL2 mutation types– two patients with mosaic small deletions, one with a mosaic whole-gene deletion, one with a multi-exon deletion and one with an intragenic multi-exon duplication. We recommend MLL2 dosage studies for all patients with typical KS, where traditional Sanger sequencing fails to identify mutations. The prevalence of such MLL2 mutations in KS may be comparable with deletions involving KDM6A. These findings may be helpful in understanding the mutational mechanism of MLL2 and the disease mechanism of KS.