The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients.

Combining Real-Time COLD-and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndromeâ

de Sanctis, Luisa
First
;
Galliano, Ilaria;Montanari, Paola;Tessaris, Daniele;Bergallo, Massimiliano
Co-last
2017-01-01

Abstract

The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients.
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http://www.karger.com/hrp
COLD-PCR; GNAS gene postzygotic mutation; McCune-Albright syndrome; Mosaicism; Real-Time MAMA-PCR; Pediatrics, Perinatology and Child Health; Endocrinology, Diabetes and Metabolism; Endocrinology
de Sanctis, Luisa; Galliano, Ilaria; Montanari, Paola; Matarazzo, Patrizia; Tessaris, Daniele; Bergallo, Massimiliano
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1680189
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