Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

ABSTRACT:

Background and objectives

The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigation was to analyze the clinical characteristics of families and individuals with this mutation.

Design, setting, participants, & measurements

Families with autosomal dominant interstitial kidney disease were referred for genetic analysis over a 14-year period. Families without UMOD or REN mutations prospectively underwent genotyping for the presence of the MUC1 mutation. Clinical characteristics were retro

SUBMITTER: Bleyer AJ 

PROVIDER: S-EPMC3944763 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature