A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
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.
Authors
- Hitoshi Osaka (ORCID: https://orcid.org/0000-0002-1320-1165)
- Takeshi Mizuguchi (ORCID: https://orcid.org/0000-0003-4998-1244)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Y. Shibata (ORCID: https://orcid.org/0000-0003-4625-5722)
- Akimichi Shibata
Institutions
- Jichi Medical University (JP)
- Ashikaga Red Cross Hospital (JP)
- Sapporo Kosei General Hospital (JP)
- Jichi Medical University Hospital (JP)
- Yokohama City University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-08-26
- DOI
- https://doi.org/10.1038/s41439-024-00291-y
- Citations
- 1
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.24
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science