该基因的致病性变异在Gsα的β6链/α5螺旋中引入了异常氨基酸序列，在两个不相关的日本家族中导致了1A型假性甲状旁腺功能减退症和假假性甲状旁腺功能减退症。
Pathogenic variants of the 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.
作者信息
Ohata Yasuhisa, Kakimoto Haruna, Seki Yuko, Ishihara Yasuki, Nakano Yukako, Yamamoto Kenichi, Takeyari Shinji, Fujiwara Makoto, Kitaoka Taichi, Takakuwa Satoshi, Kubota Takuo, Ozono Keiichi
机构信息
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
出版信息
Bone Rep. 2022 Nov 10;17:101637. doi: 10.1016/j.bonr.2022.101637. eCollection 2022 Dec.
Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of , which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of (c.1141delG, p.Asp381Thrfs23 and c.1117delC, p.Arg373Alafs31). These variants introduce abnormal amino acids in the β6 strand/α5 helix of Gsα, which interact with G protein coupling receptor (GPCR). We conclude that these variants alter the association of Gsα with GPCR and cause PHP1A or PPHP.
1A型假性甲状旁腺功能减退症（PHP1A）和假假性甲状旁腺功能减退症（PPHP）是由编码Gsα的基因功能丧失性变异引起的。我们报告了两个不相关的日本家族，其中PHP1A和PPHP家族携带未报道的该基因致病性变异（c.1141delG，p.Asp381Thrfs23和c.1117delC，p.Arg373Alafs31）。这些变异在Gsα的β6链/α5螺旋中引入了异常氨基酸，其与G蛋白偶联受体（GPCR）相互作用。我们得出结论，这些变异改变了Gsα与GPCR的结合并导致PHP1A或PPHP。
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