Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on peripheral blood smear. Pathogenic variants in five erythrocyte membrane structure-related genes ANK1 (Spherocytosis, type 1; MIM#182900), SPTB 2; MIM#616649), SPTA1 3; MIM#270970), SLC4A1 4; MIM#612653) and EPB42 5; MIM#612690) have been confirmed to be related HS. There many studies pathogenic mechanisms of HS, however, how manage transmission HS next-generation not reported. In this study, we recruited patient Targeted sequencing panel 208 system diseases detected novel heterozygous variant : c.300+2dup proband. Sanger alleles haplotype linkage analysis single nucleotide polymorphism (SNP) based were performed simultaneously. Five embryos identified one four carrying variant. Single-cell amplification whole genome showed that three had varying degrees trisomy mosaicism. One two normal was transferred Ultimately, healthy boy born, noninvasive prenatal testing for monogenic conditions (NIPT-M) disease-free. This our successful application PGT preventing allele family.