Article
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Nature genetics - 1 Sept 2010
Ng Sarah B, Bigham Abigail W, Buckingham Kati J, Hannibal Mark C, McMillin Margaret J, Gildersleeve Heidi I, Beck Anita E, Tabor Holly K, Cooper Gregory M, Mefford Heather C, Lee Choli, Turner Emily H, Smith Joshua D, Rieder Mark J, Yoshiura Koh-Ichiro, Matsumoto Naomichi, Ohta Tohru, Niikawa Norio, Nickerson Deborah A, Bamshad Michael J, Shendure Jay
Abstract excerpt
We demonstrate the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the exomes of ten unrelated probands to massively parallel sequencing. After filtering against existing SNP databases, there was no compelling candidate gene containing previously unknown variants in all affected individuals. Less stringent filtering...
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