Molecular characteristics

More studies are needed to understand how genetic changes in NACC1 are causing medical problems.

It is clear that there is something unique about the specific genetic change c.892C>T (p.Arg298Trp). In addition to the seven individuals with this genetic change who were reported in a medical journal in 2017, the authors are aware of five other individuals with this specific genetic change who all have very similar medical problems. All individuals were identified through whole exome sequencing. It is unclear what kinds of medical problems other genetic changes in the NACC1 gene may cause.