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Leri pleonosteosis : ウィキペディア英語版 | Leri pleonosteosis Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.〔Leri A (1921) Une maladie congenitale et hereditaire de l'ossification: la pleonosteose familiale. Bull Mem Soc Med Hop Paris 45: 1228-1230〕 ==Genetics==
It has been assigned the OMIM number of 151200. It is inherited in an autosomal dominant fashion. The pathogenesis of this condition appears to be due to over expression of two genes - GDF6 and SDC2.〔Banka S, Cain SA, Carim S, Daly SB, Urquhart JE, Erdem G, Harris J, Bottomley M, Donnai D, Kerr B, Kingston H, Superti-Furga A, Unger S, Ennis H, Worthington J, Herrick AL, Merry CL, Yue WW, Kielty CM, Newman WG (2014) Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Ann Rheum Dis doi: 10.1136/annrheumdis-2013-204309 〕 These genes are located on the long arm of chromosome 8(8q22.1).
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Leri pleonosteosis」の詳細全文を読む
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