title: Preimplantation genetic diagnosis for Zellweger syndrome.
abstract: OBJECTIVE
  To report on the first live birth of a normal child after performance of preimplantation genetic diagnosis (PGD) for Zellweger syndrome (ZS).
  
  
  METHODS
  Case report.
  
  
  METHODS
  Tertiary-care hospital.
  
  
  METHODS
  A family with four children diagnosed with ZS, who were all born at term and who expired around 4 months of age.
  
  
  METHODS
  In vitro fertilization and preimplantation genetic diagnosis.
  
  
  METHODS
  Preimplantation genetic diagnosis of ZS in embryos, and live birth from the transferred normal embryos.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Moeen
authors.initials: M
authors.lastname: Al-Sayed
authors.forename: Saad
authors.initials: S
authors.lastname: Al-Hassan
authors.forename: Mohamed
authors.initials: M
authors.lastname: Rashed
authors.forename: Meshal
authors.initials: M
authors.lastname: Qeba
authors.forename: Serdar
authors.initials: S
authors.lastname: Coskun
mesh_terms: D000328:Adult; D001724:Birth Weight; D003241:Consanguinity; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000235:genetics*