Publications by authors named "Chanlin Han"
BMC Med Genomics
July 2024
Article Synopsis
- GATA1-related cytopenia (GRC) can result in low blood platelet counts and anemia; hematopoietic stem cell transplantation (HSCT) is a potential cure.
- A 6-year-old boy with severe anemia due to a novel GATA1 variant underwent preimplantation genetic testing (PGT) to ensure any future baby would be healthy and HLA-compatible.
- The successful transfer of a mosaic embryo resulted in the birth of a healthy baby, demonstrating that NGS-based PGT is an effective approach for managing GRC and related disorders.
Mol Genet Genomic Med
January 2024
Article Synopsis
- Meckel-Gruber syndrome (MKS) is a serious genetic disorder that has been linked to defects in primary cilia, with few cases reported related to the TXNDC15 gene across various ethnicities.
- A fetus diagnosed with MKS at 12 weeks underwent extensive genetic testing, revealing a new pathogenic variant in TXNDC15, and preimplantation genetic testing was used to prevent passing this condition to future pregnancies.
- This case not only represents the first TXNDC15 variant identified in the Chinese population but also highlights the potential of genetic testing techniques in managing hereditary diseases like MKS.
