Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford, Choli Lee, Emily H Turner, Joshua D Smith, Mark J Rieder, Koh-Ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A Nickerson, Michael J Bamshad and Jay Shendure
Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Recent research studies have suggested that Kabuki syndrome shows both genetic and phenotypic heterogeneity. Thus, not all individuals who show the KS phenotype will have mutations in the same gene. In this study, exome sequencing helped identify disease-causing genetic variants. In this study, nonsense substitution or frameshift indel mutations in MLL2 were identified.
To learn more about the theory and potential applications for exome sequencing, visit here for a video clip featuring Deborah A. Nickerson, Ph.D., who pioneered this cutting-edge sequencing technique.
To read more about how the MLL2 gene was identified in this new research study, visit here for an article by NIH Research Matters.