USH1C and autoimmune enteropathy: Before designated as a gene causative of USH1C (Bitner-Glindzicz et al., 2000; Verpy et al., 2000), the USH1C gene product harmonin was first identified as an autoimmune antigen, synonymously named PDZ-73 and AIE-75, being upregulated in colorectal carcinomas and in cases of autoimmune enteropathy (AIE) (Kobayashi et al., 1999; Scanlan et al., 1999; Hirai et al., 2004).