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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

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dc.contributor.authorKaraca, Ender
dc.contributor.authorHarel, Tamar
dc.contributor.authorPehlivan, Davut
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorGambin, Tomasz
dc.contributor.authorAkdemir, Zeynep Coban
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.contributor.authorErdin, Serkan
dc.contributor.authorBayram, Yavuz
dc.contributor.authorCampbell, Ian M.
dc.contributor.authorHunter, Jill V.
dc.contributor.authorAtik, Mehmed M.
dc.contributor.authorVan Esch, Hilde
dc.contributor.authorYuan, Bo
dc.contributor.authorWiszniewski, Wojciech
dc.contributor.authorIsikay, Sedat
dc.contributor.authorYesil, Gozde
dc.contributor.authorYuregir, Ozge O.
dc.contributor.authorBozdogan, Sevcan Tug
dc.contributor.authorAslan, Huseyin
dc.contributor.authorAydin, Hatip
dc.contributor.authorTos, Tulay
dc.contributor.authorAksoy, Ayse
dc.contributor.authorDe Vivo, Darryl C.
dc.contributor.authorJain, Preti
dc.contributor.authorGeckinli, B. Bilge
dc.contributor.authorSezer, Ozlem
dc.contributor.authorGul, Davut
dc.contributor.authorDurmaz, Burak
dc.contributor.authorCogulu, Ozgur
dc.contributor.authorOzkinay, Ferda
dc.contributor.authorTopcu, Vehap
dc.contributor.authorCandan, Sukru
dc.contributor.authorCebi, Alper Han
dc.contributor.authorIkbal, Mevlit
dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorGezdirici, Alper
dc.contributor.authorKoparir, Erkan
dc.contributor.authorEkici, Fatma
dc.contributor.authorCoskun, Salih
dc.contributor.authorCicek, Salih
dc.contributor.authorKaraer, Kadri
dc.contributor.authorKoparir, Asuman
dc.contributor.authorDuz, Mehmet Bugrahan
dc.contributor.authorKirat, Emre
dc.contributor.authorFenercioglu, Elif
dc.contributor.authorUlucan, Hakan
dc.contributor.authorSeven, Mehmet
dc.contributor.authorGuran, Tulay
dc.contributor.authorElcioglu, Nursel
dc.contributor.authorYildirim, Mahmut Selman
dc.contributor.authorAktas, Dilek
dc.contributor.authorAlikasifoglu, Mehmet
dc.contributor.authorTure, Mehmet
dc.contributor.authorYakut, Tahsin
dc.contributor.authorOverton, John D.
dc.contributor.authorYuksel, Adnan
dc.contributor.authorOzen, Mustafa
dc.contributor.authorMuzny, Donna M.
dc.contributor.authorAdams, David R.
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorChung, Wendy K.
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorLupski, James R.
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2020-10-29T14:11:50Z
dc.date.available2020-10-29T14:11:50Z
dc.date.issued2015-11-04T00:00:00Z
dc.description.abstractDevelopment of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identification of 45 novel variants in 43 known disease genes, 41 candidate genes, and CNVs in 10 families, with an overall potential molecular cause identified in >85% of families studied. Among the candidate genes identified, we found PRUNE, VARS, and DHX37 in multiple families and homozygous loss-of-function variants in AGBL2, SLC18A2, SMARCA1, UBQLN1, and CPLX1. Neuroimaging and in silico analysis of functional and expression proximity between candidate and known disease genes allowed for further understanding of genetic networks underlying specific types of brain malformations.
dc.identifier.citationKaraca E., Harel T., Pehlivan D., Jhangiani S. N. , Gambin T., Akdemir Z. C. , Gonzaga-Jauregui C., Erdin S., Bayram Y., Campbell I. M. , et al., -Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease-, NEURON, cilt.88, ss.499-513, 2015
dc.identifier.doi10.1016/j.neuron.2015.09.048
dc.identifier.pubmed26539891
dc.identifier.scopus84946140195
dc.identifier.trdizintrdizin
dc.identifier.urihttp://hdl.handle.net/20.500.12645/25279
dc.identifier.urihttps://linkinghub.elsevier.com/retrieve/pii/S0896-6273(15)00837-5
dc.identifier.wosWOS:000365765400011
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectNeurologic Disease
dc.titleGenes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
dc.typeArticle
dspace.entity.typePublication
local.avesis.id1ffdfe5a-7f80-4cb8-80a8-ce5f08164742
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
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relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isGoalOfPublication9c198c48-b603-4e2f-8366-04edcfc1224c
relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
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