Identification of a Mutation in MAP7D3 in a Patient with Hydrocephalus and Optic Nerve Edema: Case Report

This case report describes the identification of a novel frameshift mutation in the MAP7D3 gene in a patient presenting with hydrocephalus and optic nerve edema. Using deep exome sequencing, a likely pathogenic variant was detected, expanding the genetic landscape of non-syndromic hydrocephalus. Clinical, radiological, and molecular findings are detailed, and the potential functional implications of the variant are discussed. This report highlights the importance of MAP7D3 in neurodevelopment and cerebrospinal fluid dynamics, suggesting further research directions