[Rhizomelic骨骼发育不良胎儿的遗传分析]。

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2024-07-10 DOI:10.3760/cma.j.cn511374-20230523-00309

Yang Ding, Ting Wang, Jingjing Xiang

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引用次数: 0

摘要

目的：探讨Rhizomelic骨骼发育不良胎儿的临床特征和遗传基础：探讨Rhizomelic骨骼发育不良胎儿的临床特征和遗传学基础：选择 2020 年 11 月在苏州市立医院生殖与遗传中心确诊的一名胎儿作为研究对象。对该胎儿及其父母进行了全外显子组测序（WES）。通过桑格测序验证了候选变异。同时还检查了父母双方的外周血涂片：结果：发现胎儿胸部较小，四肢较短，提示为骨骼发育不良。基因检测显示，胎儿携带 LBR 基因的复合杂合变异，包括父源 c.1687+1G>A 和母源 c.1757G>A (p.Arg586His)。父亲的血涂片显示佩尔格-休特畸形，中性粒细胞核过度分裂，而母亲的中性粒细胞似乎正常。根据美国医学遗传学和基因组学学院（ACMG）和分子病理学协会（AMP）的指导方针，c.1757G>A（p.Arg586His）变异体被列为可能致病的变异体（PM3_强+PM2_支持+PP3），c.1687+1G>A变异体也被列为可能致病的变异体（PVS1-中度+PM3+PM2-支持+PP4）：结论：LBR 基因的复合杂合变异可能是该胎儿骨骼发育不良的发病机制。

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[Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].

Objective: To explore the clinical features and genetic basis for a fetus featuring Rhizomelic skeletal dysplasia.

Methods: A fetus diagnosed at the Reproductive and Genetic Center of Suzhou Municipal Hospital in November 2020 was selected as the study subject. Whole exome sequencing (WES) was carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing. Peripheral blood smears of both parents were also examined.

Results: The fetus was found to have a small chest and short limbs, which had suggested skeletal dysplasia. Genetic testing revealed that the fetus has harbored compound heterozygous variants of the LBR gene, including a paternally derived c.1687+1G>A and a maternally derived c.1757G>A (p.Arg586His). The blood smear of the father showed Pelger-Huet anomaly with hyposegmentation of neutrophil nuclei, while the neutrophils of the mother appeared to be normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP), the c.1757G>A (p.Arg586His) variant was classified as likely pathogenic (PM3_Strong+PM2_Supporting+PP3), and so was the c.1687+1G>A variant (PVS1-Moderate+PM3+PM2-Supporting+PP4).

Conclusion: The compound heterozygous variants of the LBR gene probably underlay the pathogenesis of skeletal dysplasia in this fetus.

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.