Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 92, Issue 3, Pages 392-400Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2013.02.004
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Funding
- National Institutes of Health (NIH)
- NIH Heart, Lung, and Blood Institute
- NIH [R01NS048453, R01NS052455, P01HD070494, R01NS058721]
- Simons Foundation Autism Research Initiative
- Howard Hughes Medical Institute
- California Institute for Regenerative Medicine training grant
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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.
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