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

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2024年10月31日

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

摘要

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.