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hrp0095p1-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Usefulness of Next Generation Sequencing in the Molecular Diagnosis of McCune-Albright Syndrome in Peripheral Blood

Guimarães Faria Aline , Augusto Lima Jorge Alexander , Montenegro Luciana , Pinheiro Machado Canto Ana , Eduardo Seraphim Carlos , Rezende Tinano Flavia , Soares Jallad Raquel , Matsunaga Martin Regina , Candida Villares Fragoso Maria , Christina Souza Pinto Nadja , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

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hrp0098p2-394 | Late Breaking | ESPE2024

Identification of GNAS somatic variants in whole blood dna from patients with ovarian-origin peripheral precocious puberty using droplet digital pcr

Guimaraes Faria Aline , R Montenegro Luciana , Augusto Lima Jorge Alexander , Matsunaga Martin Regina , Candida B. V. Fragoso Maria , R Tinano Flavia , E Seraphim Carlos , Pinheiro Machado Canton Ana , Garcia Gomes Larissa , A Martos-Moreno Gabriel , Tarjuelo García Irene , Carcavilla Atilano , Tirado-Capistros Mireia , Christina Souza-Pinto Nadja , Argente Jesús , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: GNAS activating mutations are the genetic basis of McCune-Albright syndrome (MAS). Peripheral precocious puberty (PPP) due to functional ovarian cysts, with or without MAS features, denotes a potential GNAS -related disorder.Aim: To explore GNAS somatic mutations (p.R201C/H) in peripheral leukocyte DNA using ddPCR in girls with ovarian-origin PPP with or without MAS.<p class="ab...

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ESPE Abstracts

Usefulness of Next Generation Sequencing in the Molecular Diagnosis of McCune-Albright Syndrome in Peripheral Blood

Identification of GNAS somatic variants in whole blood dna from patients with ovarian-origin peripheral precocious puberty using droplet digital pcr

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