Open AccessNeurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
Author(s) -
Karimzadeh Parvaneh,
Rezakhani Sepideh,
Miryounesi Mohammad,
Alijanpour Sahar
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6195
Subject(s) - missense mutation , medicine , mutation , gene , genetics , genetic disorder , pathology , biology , disease
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.