The first Chinese Pierson syndrome with novel mutations in LAMB2.

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.

• Authors: Dan Zhao, Jie Ding, Fang Wang, Qingfeng Fan, Na Guan, Suxia Wang, Yan Zhang
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 25 Issue 3 Pg. 776-8 (Mar 2010) ISSN: 1460-2385 [Electronic] England
• PMID: 19861315 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Laminin
• laminin beta2

Topics

• Child, Preschool
• China
• Eye Abnormalities (ethnology, genetics)
• Female
• Gene Deletion
• Humans
• Kidney Diseases (congenital, ethnology, genetics)
• Laminin (genetics)
• Mutation (genetics)
• Nystagmus, Congenital (ethnology, genetics)
• Proteinuria (genetics)
• Syndrome