Genetics of the Blood-Brain Barrier
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification. The findings were published in the American Journal of Human Genetics.