CNOT1 p.Arg535Cys变体在全脑畸形伴晚期糖尿病中的应用。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-16 DOI:10.1002/ajmg.a.63836

Amaro Freire de Queiroz Júnior, Maria Teresa Vieira Sanseverino, Marcus Vinicius Martins Collares, Adriana Fornari, Luiza Amaral do Virmond, João Bosco Oliveira Filho, Osvaldo Artigalás, Têmis Maria Félix

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引用次数: 0

摘要

全脑畸形（Holoprosencephaly，HPE）是由于前脑没有裂开造成的。其病因复杂，可能是染色体异常或音速刺猬信号通路中的单基因变异所致。单基因变异，即 CNOT1 中的 p.Arg535Cys，在 HPE 中被描述为与胰腺发育不全和新生儿糖尿病有关。在此，我们报告了一例 HPE 和 CNOT1 中 p.Arg535Cys 变异但无胰腺发育的病例，患者在青春期出现糖尿病。该病例证实了 CNOT1 在胰腺发育中的作用。我们建议，对于出生时未发现胰腺异常的 CNOT1 p.Arg535Cys 患儿，应在随访期间进行糖尿病筛查。

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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

Holoprosencephaly (HPE) results from a lack of cleavage of the prosencephalon. It has a complex etiology, resulting from chromosome abnormalities or single gene variants in the Sonic hedgehog signaling pathway. A single variant, p.Arg535Cys in CNOT1, has been described in HPE in association with pancreatic agenesis and neonatal diabetes. Here, we report on a case of HPE and p.Arg535Cys in CNOT1 without pancreatic agenesis where the patient presented with diabetes mellitus in adolescence. This case reinforces the role of CNOT1 in pancreatic development. We suggest that individuals with p.Arg535Cys in CNOT1 with no pancreas abnormalities observed at birth should be screened for diabetes during follow-up.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.