A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

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2024年8月26日

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Yuri Shibata,
Akimichi Shibata,
Takeshi Mizuguchi,
Naomichi Matsumoto,
Hitoshi Osaka

摘要

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.