Genetics of agenesis of the corpus callosum

Agenesis of corpus callosum (ACC) is one of the most common brain malformations observed in humans. It is a heterogeneous malformation, with many etiologies. Isolated ACC is usually sporadic but familial cases have been reported. ACC can complicate numerous polymalformative, either monogenic or chromosomal syndromes. In some of them, for example Aicardi syndrome, Anderman syndrome or acrocallosal syndrome, ACC is a mandatory manifestation. Further identification of the molecular bases of these syndromes will be helpful in understanding the causal heterogeneity of this malformation.