A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome
Abstract UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2025-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00307-7 |
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| _version_ | 1841544862283857920 |
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| author | Masafumi Miyata Arisa Kojima Yuri Kawai Hidetoshi Uchida Hiroko Boda Naoko Ishihara Hidehito Inagaki Tetsushi Yoshikawa Hiroki Kurahashi |
| author_facet | Masafumi Miyata Arisa Kojima Yuri Kawai Hidetoshi Uchida Hiroko Boda Naoko Ishihara Hidehito Inagaki Tetsushi Yoshikawa Hiroki Kurahashi |
| author_sort | Masafumi Miyata |
| collection | DOAJ |
| description | Abstract UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms. We identified a de novo hemizygous mutation, c.1660 C > T (p.Pro554Ser), in exon 15 of the UBA1 gene in this baby. This missense mutation was located with the AAD (active adenylation domain) of the protein, a known hotspot of SMAX2 mutations. This case lends support to the genotype-phenotype correlation regarding the UBA1 mutation and its related diseases. |
| format | Article |
| id | doaj-art-3cf8f9fccd914ca9b5cc09dca227c201 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-3cf8f9fccd914ca9b5cc09dca227c2012025-01-12T12:13:23ZengNature Publishing GroupHuman Genome Variation2054-345X2025-01-011211310.1038/s41439-024-00307-7A novel UBA1 gene mutation in a patient with infantile respiratory distress syndromeMasafumi Miyata0Arisa Kojima1Yuri Kawai2Hidetoshi Uchida3Hiroko Boda4Naoko Ishihara5Hidehito Inagaki6Tetsushi Yoshikawa7Hiroki Kurahashi8Department of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatrics, Fujita Health University School of MedicineDivision of Molecular Genetics, Center for Medical Science, Fujita Health University HospitalDepartment of Pediatrics, Fujita Health University School of MedicineDivision of Molecular Genetics, Center for Medical Science, Fujita Health University HospitalAbstract UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms. We identified a de novo hemizygous mutation, c.1660 C > T (p.Pro554Ser), in exon 15 of the UBA1 gene in this baby. This missense mutation was located with the AAD (active adenylation domain) of the protein, a known hotspot of SMAX2 mutations. This case lends support to the genotype-phenotype correlation regarding the UBA1 mutation and its related diseases.https://doi.org/10.1038/s41439-024-00307-7 |
| spellingShingle | Masafumi Miyata Arisa Kojima Yuri Kawai Hidetoshi Uchida Hiroko Boda Naoko Ishihara Hidehito Inagaki Tetsushi Yoshikawa Hiroki Kurahashi A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome Human Genome Variation |
| title | A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome |
| title_full | A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome |
| title_fullStr | A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome |
| title_full_unstemmed | A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome |
| title_short | A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome |
| title_sort | novel uba1 gene mutation in a patient with infantile respiratory distress syndrome |
| url | https://doi.org/10.1038/s41439-024-00307-7 |
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