This condition is caused by changes in both copies, the maternal and paternal, of the PLAAT3gene, a gene that is required for normal fat storage in the body. All variants that have been reported today completely abolish PLAAT3 activity.
Because this condition looks similar to other inherited fat disorders, broad genetic testing using next generation sequencing is recommended. Analysis of the DNA of the parents is required to confirm that both the PLAAT3variants originate from a different parent.
PLAAT3