Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

In the European Journal of Human Genetics, a team from the Walter and Eliza Hall Institute of Medical Research, the University of Melbourne, and other centers in Australia presents a case of type 2 myotonic dystrophy detected with whole-genome sequencing on a multi-generational family originally enrolled in an autism spectrum disorder (ASD) study. The investigators searched for short tandem repeats (STR) in genome sequences for children from four nuclear families within the larger pedigree, focusing on a CNBP gene STR that turned up in two of the family members. While the STR did not coincide with ASD in the pedigree, the authors write, it did appear to correspond with mild myotonic dystrophy type 2 symptoms in the mother of two children carrying the repeat expansion. "We show that the implementation of an STR analysis pipeline to screen all WGS datasets has considerable diagnostic utility, both in the clinical and research domain," they add.