一例患有同型 RNASEH2B 内含子变异的重度艾卡迪-古蒂耶尔综合征病例。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-08-26 DOI:10.1038/s41439-024-00291-y

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

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引用次数: 0

摘要

我们报告了一例由新型同卵 RNASEH2B 内含子变异 NC_000013.10(NM_024570.4)：c.65-13G > A p.Glu22Valfs*5 引起的严重艾卡迪-古蒂耶尔综合征（Aicardi-Goutières Syndrome）。患者出生时即出现假性 TORCH 症状，包括颅内钙化、白内障和肝脾肿大。此外，患者还表现出严重的智力障碍，并在14个月时因吸入性肺炎伴间质性肺部异常而死亡。患者症状的严重性凸显了 RNase H2B C 端区域的关键作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks