Expanding the spectrum of NPHS1-associated disease.
The nephrin gene NPHS1 was cloned in 1998. Studies in families with congenital nephrotic syndrome led to the identification of this critical component of the glomerular slit diaphragm. Studies such as the new one by Santín et al. are expanding our understanding of the spectrum of disease associated with NPHS1 mutations.
Pollak
Martin R
MR
Department of Medicine, Renal Division, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA. mpollak@rics.bwh.harvard.edu
D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital / Q000235:genetics*; D010641:Phenotype
D008565:Membrane Proteins; C113267:nephrin