A novel <i>GNAS</i>-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism-Reference-Cited by-同舟云学术

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A novel <i>GNAS</i>-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism

Published:2024 Issue:2 Volume:33 Page:66-70
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Sano Shinichiro¹²,Iwamoto Shotaro³,Matsushita Rie⁴,Masunaga Yohei²,Fujisawa Yasuko²,Ogata Tsutomu²⁵

Affiliation:

1. Department of Pediatric Endocrinology and Metabolism, Shizuoka Children’s Hospital, Shizuoka, Japan

2. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

3. Total Care Center for AYA with Cancer and Children, Mie University, Mie, Japan

4. Department of Pharmacoepidemiology, Kyoto University Graduate School of Medicine and Public Health, Kyoto, Japan

5. Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Link

https://www.jstage.jst.go.jp/article/cpe/33/2/33_2023-0065/_pdf

Reference13 articles.

1. 1. Weinstein, LS, Yu, S, Warner, DR, Liu, J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001;22: 675–705.

2. 2. Yu, S, Yu, D, Lee, E, Eckhaus, M, Lee, R, Corria, Z, et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA 1998;95: 8715–20.

3. 3. Hayward, BE, Barlier, A, Korbonits, M, Grossman, AB, Jacquet, P, Enjalbert, A, et al. Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 2001;107: R31–6.

4. 4. Mantovani, G, Ballare, E, Giammona, E, Beck-Peccoz, P, Spada, A. The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002;87: 4736–40.

5. 5. Mantovani, G, Spada, A, Elli, FM. Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol 2016;12: 347–56.

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