Wanna Ke

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction

This study provides a method for PGT and subsequent prenatal diagnosis of TDD using SNP-based haplotyping and gap-PCR and identifies two novel pathogenic variants of TANGO2 deficiency disorder that extend the mutational spectrum of TDD.