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WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient

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Abstract

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, α-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.

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Acknowledgments

This work was supported by the National Nature Science Foundation of China (30170992, 30672259) and the National 10th Five-year Project (2003BA712A11-23). We are grateful to Prof. Karl Tryggvason (Sweden) and Prof. Corinne Antignac (France) for their kind gifts of antibodies. We also thank Yan Chen, Yan Xing, Lixia Yu, Guohong Wu, Yong Yao, Jianping Huang and Jingcheng Liu for their support.

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Authors and Affiliations

  1. Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Da Jie, Beijing, 100034, People’s Republic of China

    Jianguo Li, Dan Zhao, Jie Ding, Huijie Xiao, Na Guan, Qingfeng Fan & Hongwen Zhang

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  1. Jianguo Li
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  2. Dan Zhao
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  3. Jie Ding
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  4. Huijie Xiao
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  5. Na Guan
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  6. Qingfeng Fan
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  7. Hongwen Zhang
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Corresponding author

Correspondence to Jie Ding.

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Jianguo Li and Dan Zhao contributed equally to this work.

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Li, J., Zhao, D., Ding, J. et al. WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. Pediatr Nephrol 22, 2133–2136 (2007). https://doi.org/10.1007/s00467-007-0579-y

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  • DOI: https://doi.org/10.1007/s00467-007-0579-y

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