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Discovered gene causes Kabuki syndrome
Date:8/15/2010

additional MLL2 loss-of-function gene variants, which lead to a loss of function in two of the three remaining cases. Ultimately, the researchers were able to discover MLL2 mutations in nine of the 10 patients' exomes.

The findings were then validated using Sanger sequencing in 43 additional Kabuki syndrome cases. Novel MLL2 variants were found in 26 of the 43 cases. In the end, a total of 33 distinct MLL2 mutations were found in 35 of 53, or 66 percent, of patients with Kabuki syndrome. The researchers also discovered that in each of the 12 cases for which DNA from both parents was available, the MLL2 variants reflected new mutations within the affected individual's genome and were not present in either parent's genomes.

"Our findings strongly suggest that alterations in the MLL2 gene are a major cause of Kabuki syndrome," said co-senior author Jay Shendure, M.D., Ph.D., assistant professor of genome sciences at the University of Washington School of Medicine.

"It is clear that there may be additional genes in which variants cause Kabuki syndrome, as approximately one-third of cases did not have MLL2 mutations," said co-senior author Michael Bamshad, M.D., professor of pediatrics at the University of Washington School of Medicine. "To find these, it will be important to sequence the exomes of additional, well-characterized cases of Kabuki syndrome in which we do not find we don't see MLL2 mutations."


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Contact: Omar McCrimmon
mccrimmono@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
Source:Eurekalert

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