Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Parvaneh Karimzadeh; Sepideh Rezakhani; Mohammad Miryounesi; Sahar Alijanpour

doi:10.1002/ccr3.6195

Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Clin Case Rep. 2022 Aug 3;10(8):e6195. doi: 10.1002/ccr3.6195. eCollection 2022 Aug.

Authors

Parvaneh Karimzadeh¹, Sepideh Rezakhani¹, Mohammad Miryounesi², Sahar Alijanpour²

Affiliations

¹ Pediatric Neurology, Pediatric Neurology Research Center, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.
² Medical Genetics, Genomic Research Center, Taleghani Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.

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.

Keywords: FARSB; aminoacyl‐tRNA synthetase; brain calcification; developmental delay.

Publication types

Case Reports