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Genetics of the Blood-Brain Barrier

Lucia V Schottlaender et al.
March 05, 2020

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.