A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
Abstract We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. F...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00291-y |
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| author | Yuri Shibata Akimichi Shibata Takeshi Mizuguchi Naomichi Matsumoto Hitoshi Osaka |
| author_facet | Yuri Shibata Akimichi Shibata Takeshi Mizuguchi Naomichi Matsumoto Hitoshi Osaka |
| author_sort | Yuri Shibata |
| collection | DOAJ |
| description | Abstract We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. Furthermore, the patient exhibited profound intellectual impairment and died at 14 months due to aspiration pneumonia accompanied by interstitial lung abnormalities. The severity of the patient’s symptoms underscores the critical role of the C-terminal region of RNase H2B. |
| format | Article |
| id | doaj-art-ffe1d7e0e5be43fbb438ced248d6a71b |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-ffe1d7e0e5be43fbb438ced248d6a71b2025-01-19T12:15:39ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111410.1038/s41439-024-00291-yA case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variantYuri Shibata0Akimichi Shibata1Takeshi Mizuguchi2Naomichi Matsumoto3Hitoshi Osaka4Department of Pediatrics, Sano Kosei General HospitalDepartment of Pediatrics, Japanese Red Cross Ashikaga HospitalDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Pediatrics, Jichi Medical UniversityAbstract We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. Furthermore, the patient exhibited profound intellectual impairment and died at 14 months due to aspiration pneumonia accompanied by interstitial lung abnormalities. The severity of the patient’s symptoms underscores the critical role of the C-terminal region of RNase H2B.https://doi.org/10.1038/s41439-024-00291-y |
| spellingShingle | Yuri Shibata Akimichi Shibata Takeshi Mizuguchi Naomichi Matsumoto Hitoshi Osaka A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant Human Genome Variation |
| title | A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant |
| title_full | A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant |
| title_fullStr | A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant |
| title_full_unstemmed | A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant |
| title_short | A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant |
| title_sort | case of severe aicardi goutieres syndrome with a homozygous rnaseh2b intronic variant |
| url | https://doi.org/10.1038/s41439-024-00291-y |
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