KIDINS220 Variant Associated with Severe Brain Malformations in Prenatal Case

A non-consanguineous Jewish couple underwent genetic counseling following pregnancy termination due to multiple fetal brain malformations, identified by neurosonogram as corpus callosum dysgenesis, abnormal brain stem morphology, abnormal cortical sulcation, and hypertelorism. Trio exome sequencing revealed a heterozygous de novo likely pathogenic variant in the KIDINS220 gene. This variant has been associated with spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) in previous cases, though prenatal findings have primarily described ventriculomegaly. The current case presents a more severe fetal phenotype linked to the KIDINS220 variant, highlighting an expanded spectrum of prenatal brain malformations that may warrant further study and consideration in genetic counseling.