Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms | Zendy

Intza Garin | Zendy; Francesca Marta Elli | Zendy; Agnès Linglart | Zendy; Caroline Silve | Zendy; Luisa De Sanctis | Zendy; Paolo Bordogna | Zendy; Arrate Pereda | Zendy; Joe T.R. Clarke | Zendy; Caroline Kannengiesser | Zendy; R. Coutant | Zendy; Yardena Tenebaum-Rakover | Zendy; Osnat Admoni | Zendy; Guiomar Pérez de Nanclares | Zendy; Giovanna Mantovani | Zendy

Open Access

Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms

Author(s) -

Intza Garin,

Francesca Marta Elli,

Agnès Linglart,

Caroline Silve,

Luisa De Sanctis,

Paolo Bordogna,

Arrate Pereda,

Joe T.R. Clarke,

Caroline Kannengiesser,

R. Coutant,

Yardena Tenebaum-Rakover,

Osnat Admoni,

Guiomar Pérez de Nanclares,

Giovanna Mantovani

Publication year - 2015

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.2014-3098

Subject(s) - gnas complex locus , pseudohypoparathyroidism , genetics , locus (genetics) , biology , haploinsufficiency , multiplex ligation dependent probe amplification , phenotype , gene , exon , medicine , parathyroid hormone , calcium

Pseudohypoparathyroidism type Ia (PHP1A) is a rare endocrine disorder characterized by hypocalcemia, hyperphosphatemia, multiple hormonal resistance, and features of Albright hereditary osteodystrophy. When the phenotype is present but not associated with hormonal resistance, it is called psedopseudohypoparathyroidism (PPHP). Both entities have been associated to GNAS haploinsufficiency, and are mostly caused by inherited inactivating mutations at GNAS gene that codes for the stimulatory alpha subunit of G protein, although the cause remains unidentified in approximately 30% of patients.

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