Emily, thanks for sharing the results of Jackson’s genetic studies, particularly the exome sequencing and the four genes with variants of interest that were found. I want to summarize the significant results here (at least as I understand them), and then generate a few lines of inquiry to present to any experts that might help. I don’t want it to be a whole genetics course, but I want to add enough detail so that both ourselves, and any geneticist, protein experimentalist or modeler, neurologist, neurobiologist, or radiologist clinician can get the fuller picture.
Jackson is the person the geneticists designate as the ‘proband’, meaning the one who initiated the study, in this case a one year old boy. Four variants in four genes were noted:NEB (nebulin) c.11450G>A; p.S3817N
PLP1 (proteolipid protein 1) c.194T>G; p.I65S
ERCC6 (excision repair cross-complementation group 1) c.2924G>A; p.R975Q
PGAP1 (post-GPI attachment to proteins 1) c.2525+4C>T