|  Help  |  About  |  Contact Us

Publication : Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

First Author  Radmanesh F Year  2013
Journal  Am J Hum Genet Volume  92
Issue  3 Pages  468-74
PubMed ID  23472759 Mgi Jnum  J:203643
Mgi Id  MGI:5528422 Doi  10.1016/j.ajhg.2013.02.005
Citation  Radmanesh F, et al. (2013) Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 92(3):468-74
abstractText  Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.
Quick Links:
 
Quick Links:
 

Expression

Publication --> Expression annotations

 

Other

12 Bio Entities

Trail: Publication

0 Expression