Our longstanding work on the genes for NM has resulted in a set of diagnostic methods, which we are developing further for more complete coverage of the causative genes using custom-made microarrays, exome sequencing, nanopore sequencing technology, and functional studies for the assessment of the pathogenicity of missense mutations. Therefore, our group is often contacted by colleagues around the world for help, especially regarding diagnosis of nebulin-caused NM.
Assistance is requested with interpreting exome sequencing results, especially the significance of missense mutations, finding a second mutation in the nebulin gene in patients where only one such mutation has been identified, interpreting the clinical correlates of mutations identified, or a combination of these queries. A further result of our novel methodological developments, through our custom-made array for the hitherto known genes for NM, is the identification of novel mutational mechanisms in the genes previously known to cause NM.
Furthermore, we have identified two novel genes likely to cause NM, and are studying these genes and their protein products further in collaboration with international groups.