Abstract | BACKGROUND: METHODS: RESULTS: No mutations were found in the ACTN4 and TRPC6 genes, and no mitochondrial A3243G DNA transition was found in our group of patients. Two patients showed mutations in the CD2AP gene, one combined with an NPHS2 mutation. A tri-allelic hit was found in a patient carrying compound heterozygous NPHS2 mutations and a heterozygous NPHS1 mutation. In another patient a de novo WT-1 mutation was found combined with a heterozygous NPHS1 mutation, and finally two patients showed three heterozygous PLCE1 mutations. CONCLUSIONS: In our rather small group of 19 steroid-resistant FSGS patients, we found 11 mutations in podocyte genes in 6 patients. In four of them the found mutations could explain the pathology. Our data suggest that combined gene defects in podocyte genes may play a role in the development of FSGS.
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Authors | Marije Löwik, Elena Levtchenko, Dineke Westra, Patricia Groenen, Eric Steenbergen, Jan Weening, Marc Lilien, Leo Monnens, Lambert van den Heuvel |
Journal | Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
(Nephrol Dial Transplant)
Vol. 23
Issue 10
Pg. 3146-51
(Oct 2008)
ISSN: 1460-2385 [Electronic] England |
PMID | 18443213
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Adaptor Proteins, Signal Transducing
- CD2-associated protein
- Cytoskeletal Proteins
- DNA Primers
- Intracellular Signaling Peptides and Proteins
- Membrane Proteins
- NPHS2 protein
- Steroids
- nephrin
- Phosphoinositide Phospholipase C
- phospholipase C epsilon
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Topics |
- Adaptor Proteins, Signal Transducing
(genetics)
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- Cytoskeletal Proteins
(genetics)
- DNA Mutational Analysis
- DNA Primers
(genetics)
- Drug Resistance
(genetics)
- Female
- Genes, Wilms Tumor
- Glomerulosclerosis, Focal Segmental
(drug therapy, etiology, genetics)
- Heterozygote
- Humans
- Infant
- Intracellular Signaling Peptides and Proteins
(genetics)
- Male
- Membrane Proteins
(genetics)
- Mutation
- Pedigree
- Phosphoinositide Phospholipase C
(genetics)
- Podocytes
(metabolism)
- Steroids
(therapeutic use)
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