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

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dc.authoridZaki, Maha/0000-0001-7840-0002
dc.authoridDobyns, William/0000-0002-7681-2844
dc.authoridCaglayan, Ahmet/0000-0002-2332-322X
dc.authoridKaymakcalan, Hande/0000-0001-7736-7634
dc.authoridCantagrel, Vincent/0000-0002-5180-4848
dc.authoridRadmanesh, Farid/0000-0001-5431-0176
dc.contributor.authorRadmanesh, Farid
dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorSilhavy, Jennifer L.
dc.contributor.authorYilmaz, Cahide
dc.contributor.authorCantagrel, Vincent
dc.contributor.authorOmar, Tarek
dc.contributor.authorRosti, Basak
dc.date.accessioned2024-09-18T21:03:01Z
dc.date.available2024-09-18T21:03:01Z
dc.date.issued2013
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractCobblestone 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.en_US
dc.description.sponsorshipUS National Human Genome Research Institute [U54HG003067]; Yale Center for Mendelian Disorders [U54HG006504]; US National Institutes of Health (NIH) [RC2NS070477]; Gregory M. Kiez and Mehmet Kutman Foundation; NIH [U01MH081896, R01NS048453, R01NS052455, P01HD070494]; Simons Foundation Autism Research Initiative; Howard Hughes Medical Instituteen_US
dc.description.sponsorshipWe are grateful to the families for their participation in the study. We thank the Broad Institute (supported by the US National Human Genome Research Institute; grant U54HG003067 to E. Lander), the Yale Center for Mendelian Disorders; (grant U54HG006504 to R. Lifton, M. Gunel, M. Gerstein, and S. Mane) for sequencing support and analysis, J. Santini at the UCSD Microscopy Core for imaging (P30NS047101), the Yale Biomedical High Performance Computing Center for data analysis and storage, the Yale Program on Neurogenetics, the Yale Center for Human Genetics and Genomics, and Carsten G. Bonnemann (National Institute of Neurological Disorders and Stroke) for discussions. This work was supported by US National Institutes of Health (NIH) grant RC2NS070477 and the Gregory M. Kiez and Mehmet Kutman Foundation (M.G.), NIH grants U01MH081896 (to N.S.), R01NS048453, R01NS052455, and P01HD070494, the Simons Foundation Autism Research Initiative, and the Howard Hughes Medical Institute (to J.G.G.).en_US
dc.identifier.doi10.1016/j.ajhg.2013.02.005
dc.identifier.endpage474en_US
dc.identifier.issn0002-9297
dc.identifier.issue3en_US
dc.identifier.pmid23472759en_US
dc.identifier.scopus2-s2.0-84876378045en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage468en_US
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2013.02.005
dc.identifier.urihttps://hdl.handle.net/20.500.12483/13201
dc.identifier.volume92en_US
dc.identifier.wosWOS:000316161700022en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherCell Pressen_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCortical Developmenten_US
dc.subjectNeuronal Migrationen_US
dc.subjectRadial Gliaen_US
dc.subjectDeficiencyen_US
dc.subjectLaminationen_US
dc.subjectGenesen_US
dc.subjectDystroglycanopathiesen_US
dc.subjectDystrophiesen_US
dc.subjectPopulationen_US
dc.subjectExpressionen_US
dc.titleMutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalitiesen_US
dc.typeArticleen_US

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