Unknown

Dataset Information

0

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.

SUBMITTER: Akizu N 

PROVIDER: S-EPMC3591854 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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  ...[more]

Similar Datasets

Unknown Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
| S-EPMC4929875 | biostudies-other
Unknown Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum.
| S-EPMC6886535 | biostudies-literature
Unknown Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
| S-EPMC3129007 | biostudies-literature
Unknown Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
| S-EPMC5096508 | biostudies-literature
Unknown Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
| S-EPMC3977808 | biostudies-literature
Unknown Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.
| S-EPMC3862727 | biostudies-literature
Unknown Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
| S-EPMC3276675 | biostudies-literature
Unknown Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
| S-EPMC3980423 | biostudies-literature
Unknown Exome sequencing identifies GRIN2A as frequently mutated in melanoma.
| S-EPMC3161250 | biostudies-literature
Unknown Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
| S-EPMC3542465 | biostudies-literature