McCune-Albright syndrome in a discordant monozygotic twin

Roni Peleg, Luba Avizov, Alon Eliakim, Lilach Israeli-Shani, Esther Manor, Ruth Birk, Ruti Parvari

Research output: Contribution to journalArticlepeer-review

Abstract

Background: McCune-Albright syndrome is a sporadic disorder characterized by polystotic fibrous dysplasia, pigmented patches of skin, and endocrinological abnormalities. Objectives: To compare the genetic characteristics of the GNAS1 gene in a monozygotic pair of twins, one of whom was diagnosed with MAS while the other had no indication of the syndrome. Methods: We performed a molecular analysis of the GNAS1 gene in DNA extracted from peripheral blood cells and quantification of mRNA extracted from lymphoblastoid cells from both twins by quantitative real-time polymerase chain reaction. Results: Monozygosity of the twins was confirmed by typing them to four highly polymorphic microsatellites. Molecular analysis of the GNAS1 gene extracted from both twins did not reveal the cause of this discordance. Conclusions: It is possible that the exact molecular mechanism for the MAS discordance can only be determined by sampling affected tissues.

Original languageEnglish
Pages (from-to)343-347
Number of pages5
JournalIsrael Medical Association Journal
Volume11
Issue number6
StatePublished - 2009
Externally publishedYes

Keywords

  • Discordant monozygotic twin
  • Fibrous dysplasia
  • GNAS1 mutation analysis
  • McCune-Albright syndrome
  • Real-time RT-PCR

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