<i>KIDINS220</i> Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis
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.
Authors
- David A. Chitayat (ORCID: https://orcid.org/0000-0003-1944-7294)
- Elka Miller (ORCID: https://orcid.org/0000-0003-1075-5952)
- Shiri Shinar (ORCID: https://orcid.org/0000-0001-6352-4846)
- Rebekah Jobling (ORCID: https://orcid.org/0000-0003-3596-8161)
- Karen Chong (ORCID: https://orcid.org/0000-0003-2580-7532)
- Kimia Ghannad‐Zadeh (ORCID: https://orcid.org/0000-0001-6608-2430)
- Erin Mathews
- Patrick Shannon (ORCID: https://orcid.org/0000-0002-8647-6637)
Institutions
- Mount Sinai Hospital (CA)
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- SickKids Foundation (CA)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-05-02
- DOI
- https://doi.org/10.1002/pd.6804
- Primary Topic
- Fetal and Pediatric Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00