Article
First Japanese case of Pierson syndrome with mutations in LAMB2.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Apr 2013
Togawa Hiroko, Nakanishi Koichi, Mukaiyama Hironobu, Hama Taketsugu, Shima Yuko, Nakano Masaru, Fujita Naoya, Iijima Kazumoto, Yoshikawa Norishige
Abstract excerpt
Pierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria. It is caused by mutations in LAMB2, which encodes laminin β2. Approximately 50 mutations of LAMB2 from approximately 40 unrelated families have been identified; however, most of them were from Western countries. Although three patients in Asia with mutations of LAMB2 have been...
Topics
- Abnormalities, Multiple
- DNA
- DNA Mutational Analysis
- Eye Abnormalities
- Female
- Humans
- Infant, Newborn
- Japan
- Laminin
- Mutation
- Myasthenic Syndromes, Congenital