{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:00:58Z","timestamp":1774645258158,"version":"3.50.1"},"reference-count":20,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>Setting: The setting was in a tertiary-care hospital.<\/jats:p>\n               <jats:p>Patients: The patients were from a single family in which the proband has a severe form of AHO.<\/jats:p>\n               <jats:p>Interventions: Interventions were PGD and in vitro fertilization.<\/jats:p>\n               <jats:p>Main Outcome Measures: The main outcome measures were the clinical phenotypes and GNAS gene sequences of the proband, embryos, and family members.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>","DOI":"10.1210\/jc.2007-2040","type":"journal-article","created":{"date-parts":[[2007,12,19]],"date-time":"2007-12-19T04:08:34Z","timestamp":1198037314000},"page":"901-904","source":"Crossref","is-referenced-by-count":16,"title":["Preimplantation Genetic Diagnosis for Severe Albright Hereditary Osteodystrophy"],"prefix":"10.1210","volume":"93","author":[{"given":"Steven A.","family":"Lietman","sequence":"first","affiliation":[{"name":"Department of Biomedical Engineering (S.A.L., M.A.L.), Cleveland Clinic Lerner Research Institute"},{"name":"Department of Orthopedic Surgery (S.A.L.), Cleveland Clinic Foundation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Goldfarb","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology (J.G., N.D.), Cleveland Clinick"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology (J.G., N.D.), Cleveland Clinick"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Levine","sequence":"additional","affiliation":[{"name":"Section of Pediatric Endocrinology (M.A.L.), Cleveland Clinic Children\u2019s Hospital, Cleveland, Ohio 44195"},{"name":"Department of Biomedical Engineering (S.A.L., M.A.L.), Cleveland Clinic Lerner Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071613280801100_R1","doi-asserted-by":"crossref","first-page":"315","DOI":"10.7326\/0003-4819-56-2-315","article-title":"Albright\u2019s hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.","volume":"56","author":"Mann","year":"1962","journal-title":"Ann Intern Med"},{"issue":"Suppl 2","key":"2020071613280801100_R2","first-page":"641","article-title":"Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism","volume":"19","author":"Juppner","year":"2006","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2020071613280801100_R3","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0006-291X(02)00833-1","article-title":"Paternal imprinting of G\u03b1(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.","volume":"296","author":"Germain-Lee","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"2020071613280801100_R4","doi-asserted-by":"crossref","first-page":"5459","DOI":"10.1210\/en.2004-0865","article-title":"GNAS: normal and abnormal 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