A female patient was affected by an unusual picture of Van Maldergem syndrome (resembling Aicardi syndrome phenotype spectrum) with hypogenesia of the corpus callosum, choriorentinal lacunae, drugresistant epilepsy and other brain malformations (polymicrogyria, cortical dysplasia, heterotopias and asymmetric ventricles), without facial anomalies nor skeletal abnormalities. A Next Generation Sequencing panel for epilepsy and brain malformations and a further WES analysis disclosed a compound heterozygosis of DCHS1 gene, which is the cause of Van Maldergem syndrome. Given to the reduced pathogenicity of one of the two mutations, this patient could be affected by a new subtype of Van Maldergem syndrome, without face dysmorphism and skeletal abnormalities. It cannot be excluded, however, that Van Maldergem and Aicardi syndromes may share common genetic causes or pathways, as DCHS1 is located in proximity to TEAD1 (chromosome 11p15), which has been reported as causative of Aicardi syndrome in a single patient, and both the proteins are involved in the hippopathway (which regulates cellular growth and apoptosis).
Keywords: Van Maldergem syndrome; DCHS1; Aicardi syndrome; Hippo pathway
