Mutations in LAMB1 Cause Cobblestone Brain Malformation Without Muscular or Ocular Abnormalities

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2013 Mar 12

PMID 23472759

Citations 48

Authors

Farid Radmanesh

Ahmet Okay Caglayan

Jennifer L Silhavy

Cahide Yilmaz

Vincent Cantagrel

Tarek Omar

Basak Rosti

Hande Kaymakcalan

Stacey Gabriel

Mingfeng Li

Nenad Sestan

Kaya Bilguvar

William B Dobyns

Maha S Zaki

Murat Gunel

Joseph G Gleeson

Affiliations

Soon will be listed here.

Abstract

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.

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