Nephropathy with pretibial epidermolysis bullosa and deafness
Nephropathy with pretibial epidermolysis bullosa and deafness is an autosomal recessive disorder caused by mutations of the CD151 gene. So far only one truncating frameshift mutation is known. In the family affected members show an heretitary nephritis phenotype similar to Alport and also deafness and bullose epidermolysis.
Karamatic Crew V et al. (2004) CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.[^]
Kagan A et al. (1988) Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease.[^]