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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

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dc.contributor.authorJerber, Julie
dc.contributor.authorZaki, Maha S.
dc.contributor.authorAl-Aama, Jumana Y.
dc.contributor.authorRosti, Rasim Ozgur
dc.contributor.authorBen-Omran, Tawfeg
dc.contributor.authorDikoglu, Esra
dc.contributor.authorSilhavy, Jennifer L.
dc.contributor.authorCaglar, CANER
dc.contributor.authorMusaev, Damir
dc.contributor.authorAlbrecht, Beate
dc.contributor.authorCampbell, Kevin P.
dc.contributor.authorWiller, Tobias
dc.contributor.authorAlmuriekhi, Mariam
dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorVajsar, Jiri
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorOgur, Gonul
dc.contributor.authorAbou Jamra, Rami
dc.contributor.authorGunel, Murat
dc.contributor.authorGleeson, Joseph G.
dc.contributor.institutionauthorÇAĞLAR, CANER
dc.date.accessioned2021-08-03T20:59:22Z
dc.date.available2021-08-03T20:59:22Z
dc.date.issued2016-11-01T00:00:00Z
dc.description.abstractCobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan. Our screening of a cohort of 25 families with recessive forms of COB identified six families affected by biallelic mutations in TMTC3 (encoding transmembrane and tetratricopeptide repeat containing 3), a gene without obvious functional connections to alpha-dystroglycan. Most affected individuals showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly. However, the minority of the affected individuals had eye defects or elevated muscle creatine phosphokinase, separating the TMTC3 COB phenotype from typical congenital muscular dystrophies. Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement.
dc.identifier.citationJerber J., Zaki M. S. , Al-Aama J. Y. , Rosti R. O. , Ben-Omran T., Dikoglu E., Silhavy J. L. , Caglar C., Musaev D., Albrecht B., et al., -Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly-, AMERICAN JOURNAL OF HUMAN GENETICS, cilt.99, sa.5, ss.1181-1189, 2016
dc.identifier.doi10.1016/j.ajhg.2016.09.007
dc.identifier.scopus84997418598
dc.identifier.urihttp://hdl.handle.net/20.500.12645/29114
dc.identifier.wosWOS:000387529600015
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleBiallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
dc.typeArticle
dspace.entity.typePublication
local.avesis.ida6d3ca0e-4301-4dac-a58e-0f487b4de4bf
local.publication.isinternational1
relation.isAuthorOfPublication6e33515f-c9c7-4020-bcae-a2048eccbe74
relation.isAuthorOfPublication.latestForDiscovery6e33515f-c9c7-4020-bcae-a2048eccbe74
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