Mutations inPAX2Associate with Adult-Onset FSGS

Mutations in PAX2 associate with adult-onset FSGS.

FSGS is characterized by the presence of partial sclerosis of some but not all glomeruli. Studies of familial FSGS have been instrumental in identifying podocytes as critical elements in maintaining glomerular function, but underlying mutations have not been identified for all forms of this genetically heterogeneous condition. Here, exome sequencing in members of an index family with dominant F...

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy.

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.

Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) a...

Outcome of kidney allograft in patients with adulthood-onset focal segmental glomerulosclerosis: comparison with childhood-onset FSGS.

BACKGROUND Idiopathic focal segmental glomerulosclerosis (FSGS) occurring at young age is known to predispose to poor graft outcome, but the outcome of adulthood-onset FSGS (A-FSGS) has not been thoroughly investigated. Here, we compared the graft outcomes between kidney recipients with A-FSGS and childhood-onset FSGS (C-FSGS). METHODS We enrolled 47 A-FSGS recipients and 60 C-FSGS recipients...

An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.

At present, there are 24 genes associated with FSGS that follow Mendelian patterns of inheritance. These patterns of inheritance include autosomal recessive, autosomal dominant, and X-linked as well as inheritance of mitochondrial DNA. The phenotypes include syndromic FSGS, in which manifestations occur in other tissues, and nonsyndromic FSGS, in which disease is limited to the kidney. The list...