一例伴有纯合子RNASEH2B内含子变异的严重艾卡迪-古铁雷斯综合征病例。

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

Department of Pediatrics, Sano Kosei General Hospital, Tochigi, Japan.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

Hum Genome Var. 2024 Aug 26;11(1):33. doi: 10.1038/s41439-024-00291-y.

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.

我们报告了一例由新型纯合RNASEH2B内含子变异NC_000013.10（NM_024570.4）：c.65-13G＞A p.Glu22Valfs*5引起的严重Aicardi-Goutières综合征。该患者出生时伴有假性TORCH症状，包括颅内钙化、白内障和肝脾肿大。此外，该患者表现出严重的智力障碍，并于14个月时因吸入性肺炎伴间质性肺异常而死亡。患者症状的严重性突显了RNase H2B C末端区域的关键作用。