A Case of Severe Aicardi-Goutières Syndrome with a Homozygous RNASEH2B Intronic Variant

Overview

Journal Hum Genome Var

Date 2024 Aug 25

PMID 39183359

Authors

Yuri Shibata

Akimichi Shibata

Takeshi Mizuguchi

Naomichi Matsumoto

Hitoshi Osaka

Affiliations

Soon will be listed here.

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.

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