Mutation of the JAM2 gene is implicated in autosomal recessive primary familial brain calcification.

Takeaway

  • JAM2 has been identified as a novel causative gene of autosomal primary familial brain calcification (PFBC).

Why this matters

  • PFBC is a monogenic disease characterized by calcification of the basal ganglia and other brain regions presenting with motor, cognitive, psychiatric symptoms, seizures and other disturbances.

  • The autosomal recessive form of PFBC is linked to greater symptom severity and increased calcification; however, little is known about the causative genes.