Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Glomerular basement membrane disorders
Alport Syndrome
HANAC syndrome
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
MYH9 related disorders
Nail-patella syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
PXDN
Thin basement membrane nephropathy

References:

1.

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.

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2.

Kagan A et al. (1988) Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease.

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Update: Sept. 26, 2018