Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of GNAS, which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of GNAS (c.1141delG, p.Asp381Thrfs*23 and c.1117de...

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Bibliographic Details
Main Authors: Yasuhisa Ohata, Haruna Kakimoto, Yuko Seki, Yasuki Ishihara, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Makoto Fujiwara, Taichi Kitaoka, Satoshi Takakuwa, Takuo Kubota, Keiichi Ozono
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Bone Reports
Subjects:
Pseudohypoparathyroidism 1A (PHP1A)
Pseudopseudohypoparathyroidism (PPHP)
GNAS gene
Gsα
β6 strand/α5 helix
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187222004715

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http://www.sciencedirect.com/science/article/pii/S2352187222004715

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