@article{054f101a23194b5e9c80f13e26b6e05a,
title = "Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia",
abstract = "The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic syndromes. We recruited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, suggesting recessive causes. Exome sequence analysis identified C12orf57 mutations at the initiator methionine codon in four different families. C12orf57 is ubiquitously expressed and encodes a poorly annotated 126 amino acid protein of unknown function. This protein is without significant paralogs but has been tightly conserved across evolution. Our data suggest that this conserved gene is required for development of the human corpus callosum.",
author = "Naiara Akizu and Shembesh, {Nuri M.} and Tawfeg Ben-Omran and Laila Bastaki and Asma Al-Tawari and Zaki, {Maha S.} and Roshan Koul and Emily Spencer and Rosti, {Rasim Ozgur} and Eric Scott and Elizabeth Nickerson and Stacey Gabriel and {Da Gente}, Gilberto and Jiang Li and Deardorff, {Matthew A.} and Conlin, {Laura K.} and Horton, {Margaret A.} and Zackai, {Elaine H.} and Sherr, {Elliott H.} and Gleeson, {Joseph G.}",
note = "Funding Information: We thank the Center for Inherited Disease Research and UCLA Microarray Core (supported by the National Institutes of Health (NIH) and the NIH Heart, Lung, and Blood Institute) for genotyping support, and the Broad Institute (U54HG003067 to Eric Lander) for sequencing support and analysis. We thank S.J. Elledge for pINDUCER20 vector. We also thank the Wold lab (Caltech), Myers Lab (HudsonAlpha Institute for Biotechnology), and Sandstrom lab (UW ENCODE) for, respectively, RNAseq, RNApol ChIP, and H3K4me3 ChIP data, deposited on the UCSC Genome Browser. This work was supported by NIH grants R01NS048453, R01NS052455, P01HD070494 (to J.G.G.), and R01NS058721 (to E.H.S.), the Simons Foundation Autism Research Initiative, the Howard Hughes Medical Institute (J.G.G.), and a California Institute for Regenerative Medicine training grant (N.A). ",
year = "2013",
month = mar,
day = "7",
doi = "10.1016/j.ajhg.2013.02.004",
language = "English",
volume = "92",
pages = "392--400",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",
}