Evidence map›Paper›PMID 39482735›Full record

ArticleOrphanet journal of rare diseases2024

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

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

Abstract readValidation Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Yaqian Wang *The First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Yang Li *The First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Lidong ZengShenzhen GeneMind Biosciences Co., Ltd, Shenzhen, China.
Wenbo LiThe First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Xin DongThe First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Jia GuoThe First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Xiangrui MengThe First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Jiacheng LuThe First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Jiawei XuThe First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China. jiawxu@foxmail.com.ORCID 0000-0003-4336-7972

Funding

Henan Province University science and technology innovation team 24IRTSTHN037Innovative Research Group Project of the National Natural Science Foundation of China 32170819joint fund for the cultivation of superior displines 222301420013National Key R&D program 2019YFA0802200
6 · The paper itself

Abstract

backgroundSplit 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.

resultsIn 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.

conclusionsThis 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.

Indexed as

Limb Deformities, CongenitalDNA Copy Number VariationsFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansPolymorphism, Single NucleotidePregnancySingle-Cell AnalysisKaryomappingMicroduplicationNext-generation sequencingSplit hand/foot malformationWhole-genome amplification

Identifiers

PMID39482735
PMCPMC11526726

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.