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Genotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome.

Journal article
Authors Eduardo Machuca
Geneviève Benoit
Fabien Nevo
Marie-Josèphe Tète
Olivier Gribouval
Audrey Pawtowski
Per Brandström
Chantal Loirat
Patrick Niaudet
Marie-Claire Gubler
Corinne Antignac
Published in Journal of the American Society of Nephrology : JASN
Volume 184
Issue 1
Pages 286-291
ISSN 1533-3450
Publication year 2010
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 286-291
Language en
Keywords Klinisk genetik, nefrotiskt syndrom,
Subject categories Medical Genetics, Kidney diseases, Pediatrics


Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype-phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presentation, kidney histology, and disease progression in non-Finnish CNS cases by mutational screening in 107 families (117 cases) by sequencing the entire coding regions of NPHS1, NPHS2, PLCE1, WT1, LAMB2, PDSS2, COQ2, and NEPH1. We found that CNS describes a heterogeneous group of disorders in non-Finnish populations. We identified nephrin and podocin mutations in most families and only rarely found mutations in genes implicated in other hereditary forms of NS. In approximately 20% of cases, we could not identify the underlying genetic cause. Consistent with the major role of nephrin at the slit diaphragm, NPHS1 mutations associated with an earlier onset of disease and worse renal outcomes than NPHS2 mutations. Milder cases resulting from mutant NPHS1 had either two mutations in the cytoplasmic tail or two missense mutations in the extracellular domain, including at least one that preserved structure and function. In addition, we extend the spectrum of known NPHS1 mutations by describing long NPHS1 deletions. In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders.

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