HYDIN Gene Variants: Implications in Primary  Ciliary Dyskinesia and Other Diseases

HYDIN Gene Variants: Implications in Primary Ciliary Dyskinesia and Other Diseases

Elaine Vanterpool, Oakwood University
Sharie Angus, Oakwood University

Description

HYDIN is a gene that encodes a protein potentially involved in cilia motility. Mutations in this gene cause autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by cerebrospinal fluid accumulation within the brain's ventricles. This study aims to identify and assess the pathogenicity of HYDIN variants.