Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-08-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6195 |
| _version_ | 1811183092516257792 |
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| author | Parvaneh Karimzadeh Sepideh Rezakhani Mohammad Miryounesi Sahar Alijanpour |
| author_facet | Parvaneh Karimzadeh Sepideh Rezakhani Mohammad Miryounesi Sahar Alijanpour |
| author_sort | Parvaneh Karimzadeh |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T09:42:12Z |
| format | Article |
| id | doaj.art-7811086722f04de7b3dbdd89e10ac15d |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-11T09:42:12Z |
| publishDate | 2022-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-7811086722f04de7b3dbdd89e10ac15d2022-12-22T04:31:10ZengWileyClinical Case Reports2050-09042022-08-01108n/an/a10.1002/ccr3.6195Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblingsParvaneh Karimzadeh0Sepideh Rezakhani1Mohammad Miryounesi2Sahar Alijanpour3Pediatric Neurology, Pediatric Neurology Research Center, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran IranPediatric Neurology, Pediatric Neurology Research Center, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran IranMedical Genetics, Genomic Research Center, Taleghani Hospital Shahid Beheshti University of Medical Sciences Tehran IranMedical Genetics, Genomic Research Center, Taleghani Hospital Shahid Beheshti University of Medical Sciences Tehran IranAbstract 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.https://doi.org/10.1002/ccr3.6195aminoacyl‐tRNA synthetasebrain calcificationdevelopmental delayFARSB |
| spellingShingle | Parvaneh Karimzadeh Sepideh Rezakhani Mohammad Miryounesi Sahar Alijanpour Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings Clinical Case Reports aminoacyl‐tRNA synthetase brain calcification developmental delay FARSB |
| title | Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings |
| title_full | Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings |
| title_fullStr | Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings |
| title_full_unstemmed | Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings |
| title_short | Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings |
| title_sort | neurodegenerative disorder and diffuse brain calcifications due to farsb mutation in two siblings |
| topic | aminoacyl‐tRNA synthetase brain calcification developmental delay FARSB |
| url | https://doi.org/10.1002/ccr3.6195 |
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