Genetic Testing Part 1

  • The patient’s genetic testing demonstrated a heterozygous mutation in the PNPLA6 gene.

 

  • The PNPLA6 gene is associated with a spectrum of autosomal recessive neurological conditions.1
    • Examples of disorders include Gordon Holmes syndrome, Lawrence-Moon syndrome and Boucher-Neuhauser syndrome.

 

  • Based on the patient’s clinical findings, he was diagnosed with Boucher-Neuhauser syndrome (BNS).