# KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis

## TL;DR

A new genetic variant in KIDINS220 is linked to brain development issues detected before birth.

## Contribution

The first prenatal case of KIDINS220 variant associated with specific brain abnormalities is reported.

## Key findings

- A novel de novo KIDINS220 variant was identified prenatally.
- The variant was associated with ventriculomegaly, aqueductal stenosis, and corpus callosum hypoplasia.
- Trio WES/WGS proved valuable for prenatal diagnosis and counseling.

## Abstract

KIDINS220 plays a key role in neuronal survival, differentiation, and synaptic function. Abnormalities in its expression have been linked postnatally to neurodevelopmental disorders and SINO syndrome though prenatal presentations are rarely described. We report a novel de novo heterozygous KIDINS220 variant identified prenatally associated with bilateral ventriculomegaly, abnormal anterior horns, aqueductal stenosis, and a hypoplastic corpus callosum. This is the first prenatal case of such findings in KIDINS220, emphasizing the value of trio WES/WGS for diagnosis and counseling.