A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.

IF 3.4 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2024-10-31 DOI:10.1186/s13023-024-03386-5

Yaqian Wang, Yang Li, Lidong Zeng, Wenbo Li, Xin Dong, Jia Guo, Xiangrui Meng, Jiacheng Lu, Jiawei Xu

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引用次数: 0

Abstract

Background: Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is challenging in clinical practice, and traditional detection methods may lead to misdiagnoses in embryos and pregnant women.

Results: In this research, we utilized a low cell count and whole-genome amplification products to employ single nucleotide polymorphism arrays, next-generation sequencing, and third-generation sequencing methods to detect copy number variants of microduplications in a SHFM3 case with limited DNA. Additionally, Karyomapping and combined linkage analysis were conducted to validate the results.

Conclusions: This study establishes a new strategy for identifying microduplications or microdeletions at the single-cell level in clinical preimplantation genetic testing, enhancing the efficiency and accuracy of diagnosing microduplication or microdeletion diseases during IVF-PGT and prenatal diagnosis.

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在单细胞水平检测手足畸形3型微重复的新方法：以SHFM为例

背景：手足分裂畸形（SHFM）是一种先天性肢体缺损，其特征是中央指缺失或缩短。有几个基因位点与 SHFM 相关。在临床实践中，在单细胞水平上识别微重复具有挑战性，传统的检测方法可能会导致胚胎和孕妇被误诊：在这项研究中，我们利用低细胞数和全基因组扩增产物，采用单核苷酸多态性阵列、下一代测序和第三代测序方法，在一个 DNA 有限的 SHFM3 病例中检测微重复的拷贝数变异。此外，还进行了核映射和联合连锁分析以验证结果：本研究为临床植入前基因检测中单细胞水平微重复或微缺失的鉴定建立了一种新策略，提高了IVF-PGT和产前诊断中微重复或微缺失疾病诊断的效率和准确性。

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

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.