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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク De Barsy syndrome ： ウィキペディア英語版 De Barsy syndrome De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.〔(【引用サイトリンク】 title=De Barsy Syndrome )〕 It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging). It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide. The genes that cause De Barsy syndrome have not been identified yet,〔 although several studies have narrowed down the symptoms' cause. A study by Reversade et al. has shown that a mutation in PYCR1, the genetic sequence that codes for mitochondrial enzymes that break down proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome. A study by Leao-Teles et al. has shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system.〔 Alternative names for De Barsy syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.〔 ==References== 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「De Barsy syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.