Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

Abstract

Abstract We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.

Keywords

• middle interhemispheric variant of holoprosencephaly
• missense mutation
• syntelencephaly
• ZIC2