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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities
American Journal of Human Genetics, Volume 92, No. 3, Year 2013
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Description
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. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3591846/bin/mmc1.pdf
Authors & Co-Authors
Radmanesh, Farid
United States, La Jolla
Department of Neurosciences
United States, Chevy Chase
Howard Hughes Medical Institute
Caglayan, Ahmet Okay
United States, New Haven
Yale University
Silhavy, Jennifer L.
United States, La Jolla
Department of Neurosciences
United States, Chevy Chase
Howard Hughes Medical Institute
Yilmaz, Cahide
Turkey, Antakya
Mustafa Kemal Üniversitesi
Cantagrel, Vincent
United States, La Jolla
Department of Neurosciences
United States, Chevy Chase
Howard Hughes Medical Institute
Omar, Tarek E.I.
Egypt, Alexandria
Faculty of Medicine
Rosti, Başak
United States, La Jolla
Department of Neurosciences
United States, Chevy Chase
Howard Hughes Medical Institute
Kaymakçalan, Hande
Turkey, Istanbul
Bahçeşehir Üniversitesi
Gabriel, Stacey Bolk
United States, Cambridge
Massachusetts Institute of Technology
Li, Mingfeng
United States, New Haven
Yale University
Şestan, Nenad
United States, New Haven
Yale University
Bilgüvar, Kaya
United States, New Haven
Yale University
Dobyns, William B.
United States, Seattle
University of Washington
United States, Seattle
Children's Hospital and Regional Medical Center
Zaki, Maha S.
Egypt, Giza
National Research Centre
Günel, Murat
United States, New Haven
Yale University
Gleeson, Joseph G.
United States, La Jolla
Department of Neurosciences
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 95
Authors: 16
Affiliations: 10
Identifiers
Doi:
10.1016/j.ajhg.2013.02.005
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Health System And Policy