First report of preimplantation genetic diagnosis of mucopolysaccharidoses IVA and HLA typing for hematopoietic stem cell transplantation

Abstract

Abstract Background Mucopolysaccharidoses IVA is an autosomal recessive lysosomal storage disease resulting in skeletal and cartilage dysplasia. Hematopoietic stem cell transplantation is a good therapeutic option for MPS IV. Here we report the first application of PGD test for MPS IVA and HLA with the purpose of HSCT for the affected son in a family with consanguineous marriage. Haplotype analysis of linked STR markers in GALNS gene and HLA loci as well as variant detection by cycle sequencing were included in our PGD test. Results Two out of nine embryos were transferrable. The second embryo transfer was successful and resulted in the pregnancy of one healthy and HLA matched girl. Conclusions Preimplantation genetic diagnosis could be considered as a noninvasive clinical option for families with a mucopolysaccharidoses IVA patient to have a healthy child that is HLA-matched with the patient in need of hematopoietic stem cell transplantation. In lack of an appropriate hematopoietic stem cell donor the importance of preimplantation genetic diagnosis is much more significant too.

Keywords

• PGD
• MPS IVA
• GALNS
• HSCT