title: Genetics of McCune-Albright syndrome.
abstract: McCune-Albright syndrome (MAS) is a rare proteiform disease due to postzygotic, somatic mutations at codon R201 of the GNAS1 gene that results in cellular mosaicism. Different methods have been used in the molecular analysis of DNA samples from several tissues of patients with one or more MAS signs, with various mutation detection rates. We review data from the literature to investigate whether patient inclusion criteria for GNAS1 analysis, the molecular methods used to search for R201 mutations, and the type of tissues analysed, can influence the mutation detection rate in MAS. Our study indicates that to overcome the problems related to GNAS1 analysis in MAS, sensitive and specific molecular methods must be used to look for the mutation from all available affected tissues and from easily accessible tissues, and even more so in the presence of atypical and monosymptomatic forms of MAS.
authors.affiliation: Department of Pediatric Sciences, University of Torino, Italy. luisa.desanctis@unito.it
authors.forename: Luisa
authors.initials: L
authors.lastname: de Sanctis
authors.forename: Lisa
authors.initials: L
authors.lastname: Delmastro
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Russo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Matarazzo
authors.forename: Roberto
authors.initials: R
authors.lastname: Lala
authors.forename: Carlo
authors.initials: C
authors.lastname: de Sanctis
mesh_terms: D002864:Chromogranins; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D009154:Mutation / Q000235:genetics; D018579:Patient Selection; D012680:Sensitivity and Specificity
chemical_list: D002864:Chromogranins; D004247:DNA; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs