The first Chinese Pierson syndrome with novel mutations in LAMB2.
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.
Zhao
Dan
D
Department of Pediatrics, Peking University First Hospital, Beijing 100034, PR China.
Ding
Jie
J
Wang
Fang
F
Fan
Qingfeng
Q
Guan
Na
N
Wang
Suxia
S
Zhang
Yan
Y
D002675:Child, Preschool; D002681:China; D005124:Eye Abnormalities / Q000208:ethnology / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007674:Kidney Diseases / Q000151:congenital* / Q000208:ethnology / Q000235:genetics*; D007797:Laminin / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020417:Nystagmus, Congenital / Q000208:ethnology / Q000235:genetics*; D011507:Proteinuria / Q000235:genetics; D013577:Syndrome
D007797:Laminin; C058783:laminin beta2