دورية أكاديمية
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review
| العنوان: | Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review |
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| المؤلفون: | Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao |
| المصدر: | BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023) |
| بيانات النشر: | BMC, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Exome sequencing, FARSA gene, FARSA-deficiency, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS beta subunits (FARSB). Autosomal recessive inheritance of pathogenic variants of FARSA or FARSB can result in defective FARS1 which are characterized by interstitial lung disease, liver disease, brain abnormalities, facial dysmorphism and growth restriction. Methods Exome sequencing was used to detect the candidate variants. The in silico prediction and expressional level analysis were performed to evaluate the pathogenicity of the variations. Additionally, we presented the patient’s detailed clinical information and compared the clinical feature with other previously reported patients with FARSA-deficiency. Results We identified compound heterozygous rare missense variants (c.1172 T > C/ p.Leu391Pro and c.1211G > A/ p.Arg404His) in FARSA gene in a Chinese male patient. The protein structure prediction and the analysis of levels of FARSA and FARSB subunits indicated both variants pathogenic. Clinical feature review indicated inflammatory symptoms in young infants may be an additional key feature. Thyroid dysfunction should be considered as a phenotype with variable penetrance. Conclusions Our results expanded the current phenotypic and genetic spectrum of FARSA-deficiency. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1755-8794 |
| العلاقة: | https://doaj.org/toc/1755-8794Test |
| DOI: | 10.1186/s12920-023-01662-0 |
| الوصول الحر: | https://doaj.org/article/cd91398dcbc240529fbe0915b659e351Test |
| رقم الانضمام: | edsdoj.91398dcbc240529fbe0915b659e351 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17558794 |
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| DOI: | 10.1186/s12920-023-01662-0 |