Publication year
2007Source
Kidney International. Supplement, 72, 10, (2007), pp. 1198-203ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Pathology
Journal title
Kidney International. Supplement
Volume
vol. 72
Issue
iss. 10
Page start
p. 1198
Page end
p. 203
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 5.4: Renal disordersAbstract
Focal segmental glomerulosclerosis (FSGS) is a histologic diagnosis in several kidney diseases characterized by proteinuria and a severe decrease in kidney function. Mutations in several genes were found in patients with primary FSGS, one of which is a CD2-associated protein CD2AP (originally referred to as CMS). This gene encodes an adaptor protein that plays a role in endocytosis, cell motility, and cell survival. Mice deficient in Cd2ap (the mouse homolog) die due to kidney failure, while heterozygous mice develop lesions similar to those of FSGS patients. In the kidney, CD2AP regulates the actin cytoskeleton. The only previously described patient with CD2AP mutation had a severely truncated protein. In this study, we describe a patient with a novel mutation resulting in a premature stop codon yielding a protein truncated by only 4%. This shortened CD2AP protein displays a significantly decreased F-actin binding efficiency in vitro with no expression of the mutated allele in the patient's lymphocytes. Heterozygous expression of the CD2AP mutation in both parents did not lead to any kidney pathology, as both have normal glomerular filtration rates and no proteinuria.
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- Faculty of Medical Sciences [93209]
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