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

Autor: Yaqian Wang, Yang Li, Lidong Zeng, Wenbo Li, Xin Dong, Jia Guo, Xiangrui Meng, Jiacheng Lu, Jiawei Xu
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Druh dokumentu: article
ISSN: 1750-1172
DOI: 10.1186/s13023-024-03386-5
Popis: 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.
Databáze: Directory of Open Access Journals
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