WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient.
We report on a Chinese girl with Frasier syndrome (FS). She presented with steroid-resistant focal segmental glomerulosclerosis (FSGS) and male pseudohermaphroditism. The WT1 IVS 9 + 5 G>A mutation was detected in one allele in the proband. The ratio of +KTS/-KTS was 0.67 in the proband's cDNA. The expression of podocyte molecules (WT1, nephrin, podocin, alpha-actinin 4 and CD2AP) were also investigated in a renal specimen of this FS patient. WT1 expression showed diffuse nuclear staining, with less obvious speckles in the patient's glomeruli than in those of controls. The distribution and intensity of podocyte molecules were altered both in normal- and abnormal-appearing glomeruli. In conclusion, the study presented a case of FS by clinical manifestation, renal pathology, karyotype analysis and genetic testing. A lower ratio of +KTS/-KTS and an abnormal distribution of WT1, as well as abnormal expressions of other podocyte molecules, were also revealed. The mechanisms of WT1 mutation causing FS still need to be investigated.
Li
Jianguo
J
Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Da Jie, Beijing, 100034, People's Republic of China.
Zhao
Dan
D
Ding
Jie
J
Xiao
Huijie
H
Guan
Na
N
Fan
Qingfeng
Q
Zhang
Hongwen
H
D044466:Asian People; D015415:Biomarkers / Q000378:metabolism; D018797:Cell Cycle Proteins; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D005260:Female; D052159:Frasier Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D016162:Genes, Wilms Tumor; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D050199:Podocytes / Q000378:metabolism / Q000473:pathology*; D000072260:RNA Splicing Factors
D015415:Biomarkers; D018797:Cell Cycle Proteins; D009687:Nuclear Proteins; D000072260:RNA Splicing Factors; C419554:WTAP protein, human
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