Next Generation Mendelian Genetics: Kabuki Syndrome

The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from parent to child) diseases by using exome (protein coding segments of DNA) resequencing. The exome sequences of ten unrelated individuals with a diagnosis of Kabuki Syndrome (OMIM: 147920) were obtained by massively parallel DNA sequencing.]]>
Inclusion: Suspected rare, Mendelian disease of unknown etiology. There must also be at least 2 samples representative of a unique rare Mendelian disease within a cohort in order for that disease to be included in the study. For the Kabuki cohort, 10 unrelated individuals with classical diagnosis of Kabuki were included. Exclusion: None.]]>
Kabuki syndrome is a rare disease with a single-gene dominant mode of inheritance. A hypothesis was made that this gene would be identifiable as a gene common to most of the 10 individuals with Kabuki syndrome, wherein each individual had one novel, protein-changing variant in the gene after filtering against public SNP databases and HapMap exomes.]]>