Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

In the European Journal of Human Genetics, researchers from France describe rare disease-related mobile element insertions (MEI) found using exome sequence data from 2,410 individuals with development and/or neurological conditions, along with more than 800 unaffected parental exomes. With the help of a computational tool known as MELT, the team tracked down one or more MEI in 2,394 affected individuals, including more than 54,300 suspicious MEIs. Nearly 4,500 of those candidate MEIs impact genes previously linked to a human condition, the authors explain. By bringing in variant frequency, function, RNA splicing, and other data, they were able to focus in on mobile elements in the FERMT1 and GRIN2B genes that were found in two affected individuals with poikilodermia or a developmental disorder, respectively. "[O]ur work demonstrates that including MEI detection in diagnosis and research can improve the diagnostic rate in the challenging field of rare diseases," the authors write.