Kabuki (make-up) syndrome has been so far a genetic unknown. Yet darkness faded away thanks to the scientists of Washington, Nagasaki, Yokohama and Hokkaido Universities.
They discovered a gene on chromosome 12 (region 12q12-q13.2) that is responsible for a major group of Kabuki syndrome cases (around 66%). This gene is MLL2 and the detected mutations are usually diverse from family to family, even if the possibility of mutation recurrence in unrelated patients seems to have been proved. In accordance to the clinic of the syndrome, mutation parental transmission has been demonstrated in familial cases, while sporadic cases have hitherto been confirmed to be due to de novo mutations.
To learn more, read the article by Sarah B Ng and collegues on Nature Genetics (pay-per-view full-text).
References
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep;42(9):790-3. Epub 2010 Aug 15. PMID: 20711175
