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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom