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.
authors: Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA.
authors: Naiara
authors: N
authors: Akizu
authors: Nuri M
authors: NM
authors: Shembesh
authors: Tawfeg
authors: T
authors: Ben-Omran
authors: Laila
authors: L
authors: Bastaki
authors: Asma
authors: A
authors: Al-Tawari
authors: Maha S
authors: MS
authors: Zaki
authors: Roshan
authors: R
authors: Koul
authors: Emily
authors: E
authors: Spencer
authors: Rasim Ozgur
authors: RO
authors: Rosti
authors: Eric
authors: E
authors: Scott
authors: Elizabeth
authors: E
authors: Nickerson
authors: Stacey
authors: S
authors: Gabriel
authors: Gilberto
authors: G
authors: da Gente
authors: Jiang
authors: J
authors: Li
authors: Matthew A
authors: MA
authors: Deardorff
authors: Laura K
authors: LK
authors: Conlin
authors: Margaret A
authors: MA
authors: Horton
authors: Elaine H
authors: EH
authors: Zackai
authors: Elliott H
authors: EH
authors: Sherr
authors: Joseph G
authors: JG
authors: Gleeson
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D000595:Amino Acid Sequence; D002540:Cerebral Cortex / Q000378:metabolism; D003062:Codon / Q000235:genetics; D003337:Corpus Callosum / Q000378:metabolism*; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D003062:Codon; D008715:Methionine