Article
The first Chinese Pierson syndrome with novel mutations in LAMB2.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2010
Zhao Dan, Ding Jie, Wang Fang, Fan Qingfeng, Guan Na, Wang Suxia, Zhang Yan
Abstract excerpt
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...
Topics
- Child, Preschool
- China
- Eye Abnormalities
- Female
- Gene Deletion
- Humans
- Kidney Diseases
- Laminin
- Mutation
- Nystagmus, Congenital
- Proteinuria