Related Experiment Video
Updated: Sep 2, 2025

12:28
Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
Published on: June 3, 2020
17.5K
Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
Parvaneh Karimzadeh1, Sepideh Rezakhani1, Mohammad Miryounesi2
1Pediatric Neurology, Pediatric Neurology Research Center, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.
Clinical Case Reports
|August 8, 2022
Abstract:
Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant.

