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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N; Gambin, Tomasz; Coban Akdemir, Zeynep; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M; Hunter, Jill V; Atik, Mehmed M; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yesil, Gozde; Yuregir, Ozge O; Tug Bozdogan, Sevcan; Aslan, Huseyin; Aydin, Hatip; Tos, Tulay; Aksoy, Ayse; De Vivo, Darryl C; Jain, Preti; Geckinli, B Bilge; Sezer, Ozlem; Gul, Davut; Durmaz, Burak; Cogulu, Ozgur; Ozkinay, Ferda; Topcu, Vehap; Candan, Sukru; Cebi, Alper Han; Ikbal, Mevlit; Yilmaz Gulec, Elif; Gezdirici, Alper; Koparir, Erkan; Ekici, Fatma; Coskun, Salih; Cicek, Salih; Karaer, Kadri; Koparir, Asuman; Duz, Mehmet Bugrahan; Kirat, Emre; Fenercioglu, Elif; Ulucan, Hakan; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel.
Afiliación
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
  • Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
  • Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Isikay S; Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
  • Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
  • Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
  • Tug Bozdogan S; Department of Medical Genetics, Mersin University, Mersin 33343, Turkey.
  • Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
  • Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
  • Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
  • Aksoy A; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
  • De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Jain P; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
  • Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
  • Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
  • Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
  • Durmaz B; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
  • Cogulu O; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
  • Ozkinay F; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
  • Topcu V; Department of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
  • Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
  • Cebi AH; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
  • Ikbal M; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
  • Yilmaz Gulec E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Gezdirici A; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Koparir E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Ekici F; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Coskun S; Department of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
  • Cicek S; Medical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
  • Karaer K; Intergen Genetic Center, Ankara 06700, Turkey.
  • Koparir A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Duz MB; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Kirat E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Fenercioglu E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Seven M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
  • Elcioglu N; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
Neuron ; 88(3): 499-513, 2015 Nov 04.
Article en En | MEDLINE | ID: mdl-26539891
Development 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Encéfalo / Redes Reguladoras de Genes / Análisis de la Aleatorización Mendeliana / Enfermedades del Sistema Nervioso Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Neuron Asunto de la revista: NEUROLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Encéfalo / Redes Reguladoras de Genes / Análisis de la Aleatorización Mendeliana / Enfermedades del Sistema Nervioso Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Neuron Asunto de la revista: NEUROLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos