Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

ABSTRACT:

Background

At the University of Colorado Health Sciences Center, on detailed questioning, approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD) gave no family history of ADPKD. There are several explanations for this observation, including occurrence of a de novo pathogenic sequence variant or extreme phenotypic variability. To confirm de novo sequence variants, we have undertaken clinical and genetic screening of affected offspring and their parents.

Study design

Case series.

Setting & participants

24 patients with a well-documented ADPKD phenotype and no family history of polycystic kidney disease (PKD) and both parents of each patient.

Outcome

Presence or absence of PKD1 or PKD2 pathogenic sequence variants in parents of aff

SUBMITTER: Reed B 

PROVIDER: S-EPMC2598385 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature