ArticleAmerican journal of human genetics2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
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- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- A review of structural brain abnormalities in Pallister-Killian syndrome.Molecular genetics & genomic medicine · 2018Review
- A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.American journal of human genetics · 2016Article
- Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Molecular autism · 2016Article
- Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum.Molecular syndromology · 2015Article
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.Human genetics · 2015Article
- Genomic variants and variations in malformations of cortical development.Pediatric clinics of North America · 2015Review
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
- Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.Clinical genetics · 2014Article
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Authors and funding
20 authors at 12 institutions in 6 countries.
Funding
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.
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