Article
Structural Destabilization of FRMD3 by a FERM Domain Mutation Causes Hypomyelinating Disease via Oligodendrocyte Dysfunction.
ACS chemical neuroscience - 4 Feb 2026
Diksha, Kumar Abhishek, Saha Smita, Gaurav Vishal, Mathuria Yogendra Pratap, Ranjan Akash, Gupta Shailesh Kumar, Ghosh Debasish Kumar
Abstract excerpt
Hypomyelinating diseases are a heterogeneous group of neurodevelopmental disorders caused by genetic anomalies that impair myelin formation or maintenance. Here, we investigate a novel homozygous missense variant in FRMD3 (NM_174938.6:c.898T > C; p.C300R) in a 2-year-old male presenting with global developmental delay, hypotonia, mild ataxia, and MRI features consistent with hypomyelination. The variant affects a...
Topics
- Humans
- Male
- Oligodendroglia
- Membrane Proteins
- Child, Preschool
- Mutation, Missense
- Hereditary Central Nervous System Demyelinating Diseases