MEDiscuss • Medical News • Discovered gene causes Kabuki syndrome: Researchers streamline DNA sequencing strategies to find rare disease genes quickly

Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.