Transcriptional complexity in autosomal recessive polycystic kidney disease.

ABSTRACT:

Background and objectives

Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The longest open reading frame comprises 66 exons encoding polyductin or fibrocystin, a type I transmembrane protein with 4074 amino acids. Functional investigations are considerably hampered by its large size and lack of expression in tissues that are usually available for analysis such as lymphocytes or fibroblasts.

Design, setting, participants, & measurements

Allegedly strong and clear-cut genotype-phenotype correlations for the type of PKHD1 mutation could be established. Thus far, practically all patients with two truncating mutations showed perinatal or neonatal demise and at least one hypomorphic missense mutation is thought to be indispensable fo

SUBMITTER: Frank V 

PROVIDER: S-EPMC4186505 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature