Prospective Evaluation of Kidney Disease in Joubert Syndrome.

ABSTRACT:

Background and objectives

Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center.

Design, setting, participants, & measurements

We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing.

Results

Patients were ages 0.6-36 years old (mean of 9.0±7.6 years old); 41 were female. Mutations were identified in 19 genes in 92 patients; two thirds of the mutations resided in six genes: TMEM67, C5orf42, CC2D2A, CEP290, AHI1, and KIAA0586. Kidney dise

SUBMITTER: Fleming LR 

PROVIDER: S-EPMC5718273 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature