Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy

Steven A. Lietman, James Goldfarb, Nina Desai, Michael A. Levine

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)901-904
Number of pages4
JournalJournal of Clinical Endocrinology and Metabolism
Volume93
Issue number3
DOIs
StatePublished - Mar 2008
Externally publishedYes

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Preimplantation Diagnosis
Ectromelia
Embryonic Structures
Mutation
Genes
Fertilization in Vitro
Outcome Assessment (Health Care)
Pseudohypoparathyroidism
Pregnancy
Tertiary Healthcare
Tertiary Care Centers
Albright's hereditary osteodystrophy
Genotype
Mothers
Phenotype

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. / Lietman, Steven A.; Goldfarb, James; Desai, Nina; Levine, Michael A.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 93, No. 3, 03.2008, p. 901-904.

Research output: Contribution to journalArticle

Lietman, Steven A. ; Goldfarb, James ; Desai, Nina ; Levine, Michael A. / Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. In: Journal of Clinical Endocrinology and Metabolism. 2008 ; Vol. 93, No. 3. pp. 901-904.
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