Neurodegenerative disorder and diffuse brain calcifications due to
FARSB
mutation in two siblings |
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| Authors: | Parvaneh Karimzadeh Sepideh Rezakhani Mohammad Miryounesi Sahar Alijanpour |
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| Affiliation: | 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 |
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| 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: {"type":"entrez-nucleotide","attrs":{"text":"NM_005687.4","term_id":"743405629","term_text":"NM_005687.4"}}NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant. |
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| Keywords: | aminoacyl‐ tRNA synthetase, brain calcification, developmental delay, FARSB |
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