Nephropathy with pretibial epidermolysis bullosa and deafness

Definition:

Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basement membrane, lead to complete separation of the epidermis from the dermis.

References:

[1]. Norman Sachs, et al. Kidney failure in mice lacking the tetraspanin CD151. J Cell Biol. 2006 Oct 9;175(1):33-9. [Content Brief]

[2]. Vanja Karamatic Crew, et al. 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. Blood. 2004 Oct 15;104(8):2217-23. [Content Brief]

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