<i>CRB2</i>-Related Syndrome in 2 New Patients: Three Novel Variants.

ABSTRACT:

Introduction

The Crumbs homolog-2 (CRB2)-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in the CRB2 gene.

Case presentation

Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies. CRB2-related syndrome was considered with the present clinical findings and whole exome sequencing revealed three novel variants in CRB2 gene. Microcephaly, ventricular hypertrophy, anomalous pulmonary venous return, pulmonary sequestration, and thymus hypoplasia were presented only in the current patients. Variants in exon 2 (c.335G>A, p.Cys

SUBMITTER: Dogan Arı AB 

PROVIDER: S-EPMC12303573 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature