Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

IF 1.6 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2025-01-01 DOI:10.1002/mgg3.70062

Li-Min Cui, Hua-Ying Hu, Xiao-Mei Zhai, Ming-Fei Qi, Yan-Ming Liu, Cong-Ying Han, Jing Zhang, Ming Shen, Yu-Lan Xiang, Wen-Qi Chen, Kai Yang, Dong-Liang Zhang, Huan-Xia Xing

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引用次数: 0

Abstract

Background: Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.

Materials and methods: In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection. Chromosome karyotyping, microarray analysis (CMA), and whole exome sequencing (WES) techniques are performed as needed. Sanger sequencing and fluorescent quantitative PCR (QF-PCR) were used as validation methods.

Results: A total of 16 cases (61.5%, 16/26) received positive results at various levels of testing, including one trisomy 18, four copy number variations (CNVs), and 11 sequence variations. Additionally, four novel SD-related sequence mutations were detected in this study.

Conclusion: Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.

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26例产前骨骼发育不良多平台基因检测分析。

背景：骨骼发育不良（SD）是影响人类骨骼系统的一系列高度异质性的先天性遗传疾病。精细化的遗传诊断有助于SDs的准确诊断和预后评价。材料与方法：本研究选取了26例SD患者，采用设计的序列基因检测方法进行分析。染色体核型，微阵列分析（CMA）和全外显子组测序（WES）技术是必要的。采用Sanger测序和荧光定量PCR （QF-PCR）作为验证方法。结果：16例（61.5%,16/26）在各级检测中均呈阳性，其中1例为18三体，4例拷贝数变异（拷贝数变异），11例序列变异。此外，本研究还检测到4个新的sd相关序列突变。结论：本研究结果为相应家庭的遗传咨询和扩大SD的突变谱提供了确凿的依据。此外，本研究表明，一系列包括各种遗传技术的策略有助于诊断高度异质性遗传疾病，如SD。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.