Basic science meets clinical medicine: identification of a CD2AP-deficient patient.
Recent years have witnessed an explosion of research into the molecular basis of glomerular disease resulting in nephrotic- range urinary protein leak using both human genetics and animal models. Löwik et al. describe the first case report of an early-onset nephrotic syndrome presenting in conjunction with a homozygous CD2AP mutation. These data demonstrate the convergence between basic and clinical approaches and their potential to transform our understanding of the pathogenetic mechanisms underlying human glomerular disease.
Akilesh
S
S
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Koziell
A
A
Shaw
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AS
D000199:Actins / Q000378:metabolism; D048868:Adaptor Proteins, Signal Transducing / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D015510:Clinical Medicine; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D051379:Mice; D008954:Models, Biological; D008969:Molecular Sequence Data; D009154:Mutation; D012586:Science; D017422:Sequence Analysis, DNA
D000199:Actins; D048868:Adaptor Proteins, Signal Transducing; C114545:CD2-associated protein; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins