Unexplained kidney failure in young people

Gene: CD151

Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin. Also the presentation is syndromic so end-stage renal disease is unlikely to be the only phenotype picked up.

Created: 31 Mar 2020, 1:41 p.m. | Last Modified: 31 Mar 2020, 1:44 p.m.

Panel Version: 1.89

Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM.

The 3 patients from 2 families described in PMID: 15265795 - Karamatic Crew et al 2004 all had end-stage kidney disease and homozygous insertion in the CD151 gene. Although they are described as unrelated both families are of Indian Jewish origin. The ages of the patients are not reported.

Another case is described in PMID: 29138120 - Vahidnezhad et al 2018 where the patient had history of nephropathy with proteinuria.

PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria

Created: 31 Mar 2020, 1:38 p.m. | Last Modified: 31 Mar 2020, 1:40 p.m.

Panel Version: 1.84

Publications

• 15265795