Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism | Zendy

Léopoldine Bricaire | Zendy; MarieFrançoise Odou | Zendy; Catherine Cardot-Bauters | Zendy; Brigitte Delemer | Zendy; Marie-Odile North | Zendy; Sylvie Salenave | Zendy; Delphine Vezzosi | Zendy; JeanMarc Kuhn | Zendy; Arnaud Murat | Zendy; Philippe Caron | Zendy; JeanLouis Sadoul | Zendy; Caroline Silve | Zendy; Philippe Chanson | Zendy; Anne Barlier | Zendy; Éric Clauser | Zendy; Nicole Porchet | Zendy; Lionel Groussin | Zendy

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Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

Author(s) -

Léopoldine Bricaire,

MarieFrançoise Odou,

Catherine Cardot-Bauters,

Brigitte Delemer,

Marie-Odile North,

Sylvie Salenave,

Delphine Vezzosi,

JeanMarc Kuhn,

Arnaud Murat,

Philippe Caron,

JeanLouis Sadoul,

Caroline Silve,

Philippe Chanson,

Anne Barlier,

Éric Clauser,

Nicole Porchet,

Lionel Groussin

Publication year - 2013

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.2012-2789

Subject(s) - primary hyperparathyroidism , penetrance , germline mutation , point mutation , gene mutation , gastroenterology , biology , hyperparathyroidism , pathology , medicine , genetics , mutation , gene , phenotype

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant syndrome with incomplete penetrance that can associate in a single patient parathyroid adenoma or carcinoma, fibro-osseous jaw tumor, cystic kidney lesion, and uterine tumor. Germline mutations of the HRPT2 gene (CDC73) coding for parafibromin are identified in approximately 50%-75% of HPT-JT cases and in approximately 14% of familial isolated hyperparathyroidism. A whole deletion of this gene has recently been reported in 1 sporadic case and in a family presenting with HPT-JT.

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