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Cushing proximal symphalangism and the NOG and GDF5 genes

机译:缓冲近端交指和NOG和GDF5基因

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摘要

Proximal symphalangism (SYM1) is an autosomal-dominant developmental disorder of joint fusion. This disorder is best known from famous historical descriptions of two large kindred: Cushing’s description in 1916 of the “straight-fingered” Brown family of Virginia and Drinkwater’s description in 1917 of the British Talbot family of noble blood, descended from the English war hero John Talbot, the first Earl of Shrewsbury (1388–1453). Recent genetic studies link this phenotype to expression of abnormal genes at future joint sites: too little expression of NOG, a growth antagonist, or overexpression of GDF5, a growth agonist, results in cartilage overgrowth and bony fusion. This review unites in depth the first historical accounts of SYM1 with a clinical description and reviews the current understanding of the molecular mechanism underlying what is likely the oldest dominant trait ever studied.
机译:近端交指(SYM1)是关节融合的常染色体显性发育障碍。这种疾病从两个大家族的著名历史描述中最为人所知:库欣在1916年描述了弗吉尼亚的“直指”布朗家族,而德沃特在1917年描述了英国塔尔伯特贵族血统,源于英国战争英雄约翰塔尔伯特(Talbot),舒兹伯利的第一任伯爵(1388–1453)。最近的遗传学研究将此表型与未来关节部位异常基因的表达联系起来:生长拮抗剂NOG的过少表达或生长激动剂GDF5的​​过表达会导致软骨过度生长和骨融合。这篇综述深入地结合了SYM1的第一个历史记录和临床描述,并综述了目前对可能是最古老的显性特征的分子机制的理解。

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