Genes That Affect Brain Structure And Function Identified By Rare Variant Analyses Of Mendelian Neurologic Disease
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Tarih
2015Yazar
Karaca, Ender
Harel, Tamar
Pehlivan, Davut
Jhangiani, Shalini N.
Gambin, Tomasz
Akdemir, Zeynep Coban
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.
Bozdogan, Sevcan Tug
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
Gulec, Elif Yilmaz
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
Yildirim, Mahmut Selman
Aktas, Dilek
Alikasifoglu, Mehmet
Ture, Mehmet
Yakut, Tahsin
Overton, John D.
Yuksel, Adnan
Ozen, Mustafa
Muzny, Donna M.
Adams, David R.
Boerwinkle, Eric
Chung, Wendy K.
Gibbs, Richard A.
Lupski, James R.
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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.