OBJECTIVE: To report on the first live birth of a normal child after performance of preimplantation genetic diagnosis (PGD) for Zellweger syndrome (ZS). DESIGN: Case report. SETTING: Tertiary-care hospital. PATIENT(S): A family with four children diagnosed with ZS, who were all born at term and who expired around 4 months of age. INTERVENTION(S): In vitro fertilization and preimplantation genetic diagnosis. MAIN OUTCOME MEASURE(S): Preimplantation genetic diagnosis of ZS in embryos, and live birth from the transferred normal embryos. RESULT(S): After PGD, two genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy baby girl was delivered in week 40 of pregnancy. The baby was confirmed as genotypically wild-type, and free of any sign of ZS. CONCLUSION(S): To the best of our knowledge, this is the first successful PGD for ZS caused by mutation in PEX26 gene, with the subsequent delivery of a homozygous normal baby.
OBJECTIVE: To report on the first live birth of a normal child after performance of preimplantation genetic diagnosis (PGD) for Zellweger syndrome (ZS). DESIGN: Case report. SETTING: Tertiary-care hospital. PATIENT(S): A family with four children diagnosed with ZS, who were all born at term and who expired around 4 months of age. INTERVENTION(S): In vitro fertilization and preimplantation genetic diagnosis. MAIN OUTCOME MEASURE(S): Preimplantation genetic diagnosis of ZS in embryos, and live birth from the transferred normal embryos. RESULT(S): After PGD, two genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy baby girl was delivered in week 40 of pregnancy. The baby was confirmed as genotypically wild-type, and free of any sign of ZS. CONCLUSION(S): To the best of our knowledge, this is the first successful PGD for ZS caused by mutation in PEX26 gene, with the subsequent delivery of a homozygous normal baby.
Authors: Nancy E Braverman; Gerald V Raymond; William B Rizzo; Ann B Moser; Mark E Wilkinson; Edwin M Stone; Steven J Steinberg; Michael F Wangler; Eric T Rush; Joseph G Hacia; Mousumi Bose Journal: Mol Genet Metab Date: 2015-12-23 Impact factor: 4.797