MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

ABSTRACT:

Background

Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of patients. Genetic studies have shown that familial focal segmental glomerulosclerosis is a disease of the podocytes, which are major components of the glomerular filtration barrier. However, the molecular cause in over half the cases of primary focal segmental glomerulosclerosis is unknown, and effective treatments have been elusive.

Methods

We performed whole-genome linkage analysis followed by high-throughput sequencing of the positive-linkage area in a family with autosomal recessive focal segmental glomerulosclerosis (index family) and sequenced a newly dis

SUBMITTER: Mele C 

PROVIDER: S-EPMC3701523 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature