Increased Prevalence of theGCM2Polymorphism, Y282D, in Primary Hyperparathyroidism: Analysis of Three Italian Cohorts | Zendy

Leonardo D’Agruma | Zendy; Michela Coco | Zendy; Vito Guarnieri | Zendy; Claudia Battista | Zendy; Lucie Canaff | Zendy; Antonio Stefano Salcuni | Zendy; Sabrina Corbetta | Zendy; Filomena Cetani | Zendy; Salvatore Minisola | Zendy; Iacopo Chiodini | Zendy; Cristina Eller-Vainicher | Zendy; Anna Spada | Zendy; Claudio Marcocci | Zendy; Giuseppe Guglielmi | Zendy; Michele Zini | Zendy; Rosanna Clemente | Zendy; Betty Wong | Zendy; Danilo de Martino | Zendy; Alfredo Scillitani | Zendy; Geoffrey N. Hendy | Zendy; David E.C. Cole | Zendy

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Increased Prevalence of theGCM2Polymorphism, Y282D, in Primary Hyperparathyroidism: Analysis of Three Italian Cohorts

Author(s) -

Leonardo D’Agruma,

Michela Coco,

Vito Guarnieri,

Claudia Battista,

Lucie Canaff,

Antonio Stefano Salcuni,

Sabrina Corbetta,

Filomena Cetani,

Salvatore Minisola,

Iacopo Chiodini,

Cristina Eller-Vainicher,

Anna Spada,

Claudio Marcocci,

Giuseppe Guglielmi,

Michele Zini,

Rosanna Clemente,

Betty Wong,

Danilo de Martino,

Alfredo Scillitani,

Geoffrey N. Hendy,

David E.C. Cole

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-2857

Subject(s) - primary hyperparathyroidism , cohort , transactivation , endocrinology , missense mutation , medicine , hyperparathyroidism , biology , gastroenterology , genetics , phenotype , gene , gene expression

Glial cells missing-2 (GCM2) is key for parathyroid gland organogenesis. Its persistent expression in the adult parathyroid raises the possibility that overactive forms play a role in the evolution of parathyroid hyperactivity or tumorigenesis. A GCM2 c.844T → G; p.Y282D missense variant has been described within a transactivation inhibitory domain (amino acids 263-352).

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