Open AccessSO029IDENTIFYING THE CULPRIT GENE IN 400 GENETICALLY UNRESOLVED AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY OR LIVER DISEASE (ADPKD/ADPLD) PEDIGREES
Author(s) -
Émilie Cornec-Le Gall,
Christina M. Heyer,
Sarah R. Senum,
MariePierre Audrézet,
Yannick Le Meur,
Vicente E. Torres,
Peter C. Harris
Publication year - 2017
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfx136
Subject(s) - medicine , culprit , autosomal dominant polycystic kidney disease , pedigree chart , polycystic kidney disease , polycystic liver disease , gene , kidney disease , disease , genetics , pkd1 , biology , liver transplantation , transplantation , myocardial infarction
AND AIMS: In 7 to 10% of ADPKD patients no mutation of the PKD1 and PKD2 genes is identified. The recent description of GANAB, encoding the α subunit of the glucosidase II, where mutations impair polycystin trafficking, indicate further genic heterogeneity in ADPKD and ADPLD. We hypothesized that, (1)-other genes processing the polycystin proteins are associated with ADPKD/ADPLD, (2)- some patients with other cystic disorders are misdiagnosed as ADPKD, and (3)- that Sanger sequencing misses some PKD1/PKD2 mutations. Our aim is to define the etiology of a cohort of 400 ADPKD-like patients without detected PKD1 or PKD2 mutations
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