Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia

Naiara Akizu, Nuri M. Shembesh, Tawfeg Ben-Omran, Laila Bastaki, Asma Al-Tawari, Maha S. Zaki, Roshan Koul, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Gilberto Da Gente, Jiang Li, Matthew A. Deardorff, Laura K. Conlin, Margaret A. Horton, Elaine H. Zackai, Elliott H. Sherr*, Joseph G. Gleeson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)392-400
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number3
Publication statusPublished - Mar 7 2013

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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