Preimplantation genetic diagnosis for Zellweger syndrome.
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.
Al-Sayed
Moeen
M
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Hassan
Saad
S
Rashed
Mohamed
M
Qeba
Meshal
M
Coskun
Serdar
S
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*