Table 2.

Genetic diseases of tight junction proteins

Gene	Disease	Pathology/Mechanism	Ref.
Cldn-1	Ichthyosis, sclerosing cholangitis	Affects skin and bile ducts	(Hadj-Rabia et al. 2004)
Cldn-14	Nonsyndromic deafness, DFNB29	Cochlear hair cell degeneration	(Ben Yosef et al. 2003)
Cldn-16
Human	HHNCa	Defective renal Mg++ reabsorption	(Simon et al. 1999)
Bovine	interstitial nephritis		(Hirano et al. 2000)
Cldn-19	Renal Mg++ loss and vision loss	Similar to Cldn-16	(Konrad et al. 2006)
PMP22	Peripheral polyneuropathies	Demyelinization	(Gabreels-Festen and Wetering 1999)
	HNPPb	Gene deletion
	Charcot-Marie-Tooth Type 1A	Gene duplication
	Dejerine-Sottas syndrome	Point mutations
ZO-2	Familial hypercholanemia	Defective PDZ-claudin binding	(Carlton et al. 2003)
Tricellulin	Nonsyndromic deafness	Loss of ZO-1 binding	(Riazuddin et al. 2006)

^aHypomagnesemia hypercalciuria with nephrocalcinosis

^bHereditary neuropathy with liability to pressure palsies. Modified, with permission, from Van Itallie and Anderson 2006 (© Annual Reviews www.annualreviews.org).