| The first Chinese Pierson syndrome with novel mutations in LAMB2. | |
| | |
MedLine Citation:
|
PMID: 19861315 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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 |
Related Documents
:
|
18609495 - Bilateral macular detachment caused by bilateral optic nerve malformation in a papillor... 8068885 - Clinical syndromes of hormone receptor mutations: hormone resistance and independence. 12900905 - Gorlin syndrome with ulcerative colitis in a japanese girl. 20127975 - Review and update of mutations causing waardenburg syndrome. 7072555 - Constitutional narrowness of the lumbar spinal canal and cheiro-lumbar dysostosis. 9475095 - Atelosteogenesis type 2. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-10-26 |
Journal Detail:
|
Title: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association Volume: 25 ISSN: 1460-2385 ISO Abbreviation: Nephrol. Dial. Transplant. Publication Date: 2010 Mar |
Date Detail:
|
Created Date: 2010-02-26 Completed Date: 2010-06-03 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8706402 Medline TA: Nephrol Dial Transplant Country: England |
Other Details:
|
Languages: eng Pagination: 776-8 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Peking University First Hospital, Beijing 100034, PR China. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
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 |
| Chemical | |
Reg. No./Substance:
|
0/Laminin; 124148-86-3/laminin beta2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Functional polymorphisms in transforming growth factor-beta-1 (TGF{beta}-1) and vascular endothelial...
Next Document: Quartan malaria-associated childhood nephrotic syndrome: now a rare clinical entity in malaria endem...