Publications by authors named "Yui Shichiri"
Article Synopsis
- Cytogenetic analysis of the product of conception (POC) is crucial for identifying chromosomal abnormalities, which can guide preimplantation genetic testing; traditional G-staining methods often fail due to issues with cell culture.* -
- Recent research suggests that low-coverage whole-genome sequencing (lcWGS) using next-generation sequencing (NGS) is a promising alternative for POC analysis, with two NGS protocols showing equivalent results across 20 samples.* -
- However, caution is advised when interpreting data related to the X chromosome, as some anomalies may stem from technical artifacts rather than true genetic conditions, indicating the need for careful analysis in NGS applications.*
Objective: Xq chromosome duplication with complex rearrangements is generally acknowledged to be associated with neurodevelopmental disorders, such as Pelizaeus-Merzbacher disease (PMD) and MECP2 duplication syndrome. For couples who required a PGT-M (pre-implantation genetic testing for monogenic disease) for these disorders, junction-specific PCR is useful to directly detect pathogenic variants. Therefore, pre-clinical workup for PGT-M requires the identification of the junction of duplicated segments in PMD and MECP2 duplication syndrome, which is generally difficult.
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- GATA4 is linked to congenital heart disease and now recognized for its role in disorders of sexual development (DSD), particularly in a case of a 46,XY DSD patient with an atrial septal defect.
- A specific mutation (c.487C>T) was found to reduce transcriptional activity of downstream genes, showing that heart development may need stricter GATA4 regulation than testicular development.
- The study suggests that GATA4 variants exhibit a dominant-negative effect, impacting transcriptional activity when mixed with normal protein, and indicates that some pathogenic variants could also be found in healthy parents, hinting at a complex genetic threshold theory for these conditions.