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NDT Advance Access published online on October 26, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfp563
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© The Author 2009. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


The first Chinese Pierson syndrome with novel mutations in LAMB2

Dan Zhao1, Jie Ding1, Fang Wang1, Qingfeng Fan1, Na Guan1, Suxia Wang and Yan Zhang1

1 Department of Pediatrics, Peking University First Hospital, Beijing 100034, PR China 2 Department of Electron Microscopy, Peking University First Hospital, Beijing 100034, PR China

Correspondence and offprint requests to: Correspondence and offprint requests to: Jie Ding; E-mail: djnc_5855{at}126.com



  Abstract

Background. Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes. LAMB2 was the causative gene.

Methods. A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing.

Results. Two novel mutations were identified, C757fsX767 and P1413fsX1451, which predicted truncated proteins and were confirmed in the paternal and maternal origins, respectively.

Conclusions. This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations. The phenotype may be different in different ethics.

Keywords: autosomal recessive; genotype; myosis; Pierson syndrome

Received for publication: 12. 6.09
Accepted in revised form: 28. 9.09


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