Table 2.

Hereditary human diseases of tight junctions

GeneDiseasePathology/MechanismReference
cln-14 Deafness, DFNB29Cochlear hair cell degeneration 67
cln-16 Hypomagnesemia hypercalciuria with nephrocalcinosisDefective renal Mg2+ reabsorption 52
pmp22 Peripheral polyneuropathies Charcot-Maire-Tooth type 1A Dejerine-Sottas syndromeDefective myelin barriers 10
zo-2 Familial hypercholanemiaReduced claudin binding 12