CNOT1 p.Arg535Cys变体在全脑畸形伴晚期糖尿病中的应用。

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part A 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 Oliveira Bosco 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

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .