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Updated: Jul 9, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy
Steven A Lietman1, James Goldfarb, Nina Desai
1Department of Orthopedic Surgery, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA. lietmas@ccf.org
Context:
Preimplantation genetic diagnosis (PGD) enables the selection of embryos without mutations for implantation and has not been described to our knowledge for mutations in GNAS. Phocomelia in a patient with Albright hereditary osteodystrophy (AHO) has also not been previously described.
Objective:
The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and pseudohypoparathyroidism type 1a with phocomelia and to perform PGD on embryos derived by in vitro fertilization to deliver an unaffected infant.
Design:
A proband and his family are described clinically, the GNAS gene was sequenced to identify a novel mutation in the proband, and PGD was performed on embryos.
Setting:
The setting was in a tertiary-care hospital.
Patients:
The patients were from a single family in which the proband has a severe form of AHO.
Interventions:
Interventions were PGD and in vitro fertilization.
Main Outcome Measures:
The main outcome measures were the clinical phenotypes and GNAS gene sequences of the proband, embryos, and family members.
Results:
After PGD, three genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy male infant was delivered at 36.5 wk gestation. The GNAS genes in the baby were confirmed as wild-type, and the infant is free of any signs of AHO.
Conclusions:
We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD.
