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芬兰丰富的SLC26A7变体在先天性甲状腺功能低下症:临床谱,甲状腺组织病理学和表达分析
Laura Niuro1,2, Johanna Ojala1, Rowmika Ravi1
1Department of Clinical Sciences, Faculty of Medicine, University of Turku, Turku, Finland.
概括
在SLC26A7基因的致病变体导致先天性甲状腺功能低下 (CH) 变异的表型,包括和dentofacial异常. 在 SLC26A7A7 中.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学是一种遗传学.
- 分子生物学分子生物学
背景情况:
- 先天性甲状腺功能低下症 (CH) 是由于甲状腺激素合成缺陷造成的.
- 在SLC26A7基因的致病变体与dyshormonogenetic性CH.CH.相关.
- 在甲状腺激素合成中SLC26A7的精确功能和细胞定位尚未完全理解.
研究的目的:
- 在芬兰CH患者中调查SLC26A7变异.
- 描述与SLC26A7变种相关的临床表型.
- 分析甲状腺特异性基因表达和SLC26A7局部化.
主要方法:
- 139名CH患者的外体序列测序和FinnGen数据库的查.
- 在人类样本和小鼠模型中分析甲状腺组织学和基因表达.
- 对SLC26A7变体的调查,包括同卵性致病变体携带者.
主要成果:
- 在CH患者中发现了四种新型同卵性SLC26A7致病变体 (c.1893delT,p.F631Lfs*8).
- 现象类型从严重的CH与先天性喉到晚期出现的甲状腺功能低下和dentofacial异常.
- SLC26A7定位在底侧膜上,表达受到甲状腺,GNAS和的影响.
结论:
- 该SLC26A7致病变体呈现出多种表型,包括CH,,以及dentofacial异常.
- SLC26A7的底侧局部依赖于甲状腺,GNAS和.
- 这些因素可能有助于观察到SLC26A7相关的CH的表型变异性.
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