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赖氨酸羟化酶活性正常的眼部埃勒斯-当洛综合征

Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.

作者信息

Judisch G F, Waziri M, Krachmer J H

出版信息

Arch Ophthalmol. 1976 Sep;94(9):1489-91. doi: 10.1001/archopht.1976.03910040323006.

DOI:10.1001/archopht.1976.03910040323006
PMID:962660
Abstract

We report two brothers affected with what has been called either fragilitas oculi or the Ehlers-Danlos syndrome type VI. Previously reported cases of the Ehlers-Danlos syndrome type VI showed a deficiency of lysyl hydroxylase in cultured fibroblasts. Assays of cultured skin fibroblasts from these two boys yielded normal activity of this enzyme, suggesting that there are two variants of this disease.

摘要

我们报告了两兄弟患有被称为眼脆症或埃勒斯-当洛综合征VI型的疾病。先前报道的埃勒斯-当洛综合征VI型病例显示培养的成纤维细胞中赖氨酰羟化酶缺乏。对这两个男孩培养的皮肤成纤维细胞进行检测，该酶活性正常，提示该疾病存在两种变异型。

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1
Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.赖氨酸羟化酶活性正常的眼部埃勒斯-当洛综合征
Arch Ophthalmol. 1976 Sep;94(9):1489-91. doi: 10.1001/archopht.1976.03910040323006.
2
Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.患有Ⅵ型埃勒斯-当洛综合征家族中胶原蛋白赖氨酸羟化酶缺乏症的基因分型和产前评估
Am J Hum Genet. 1984 Jul;36(4):783-90.
3
Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome.腺病毒基因转移可恢复Ⅵ型埃勒斯-当洛综合征中的赖氨酰羟化酶活性。
J Invest Dermatol. 2001 Apr;116(4):602-5. doi: 10.1046/j.1523-1747.2001.01300.x.
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Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.两名患有培养的皮肤成纤维细胞中赖氨酰羟化酶活性缺乏但皮肤中仅有轻度羟赖氨酸缺乏的兄弟姐妹的埃勒斯-当洛综合征。
Helv Paediatr Acta. 1975 Oct;30(3):255-74.
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Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI.VI型埃勒斯-当洛综合征变异体的生化特征
Eur J Clin Invest. 1983 Aug;13(4):357-62. doi: 10.1111/j.1365-2362.1983.tb00113.x.
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Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid.赖氨酸羟化酶活性正常的VI型埃勒斯-当洛综合征无法用抗坏血酸细胞摄取缺陷来解释。
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Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.一名患有某种埃勒斯-当洛综合征的患者体内缺乏羟赖氨酸的皮肤胶原蛋白。
J Bone Joint Surg Am. 1974 Sep;56(6):1228-34.
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Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.脆性角膜综合征：一种遗传性结缔组织疾病，不同于Ⅵ型埃勒斯-当洛综合征和眼脆症，具有眼球自发穿孔、蓝色巩膜、红发以及正常的胶原赖氨酸羟化。
Eur J Pediatr. 1990 Apr;149(7):465-9. doi: 10.1007/BF01959396.
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Preferential hydroxylation of type IV collagen by lysyl hydroxylase from Ehlers-Danlos syndrome type VI fibroblasts.
Biochem Biophys Res Commun. 1980 Oct 31;96(4):1778-84. doi: 10.1016/0006-291x(80)91380-7.
10
Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
J Pediatr. 1989 Sep;115(3):405-9. doi: 10.1016/s0022-3476(89)80839-x.

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.ZNF469 是脆性角膜综合征（BCS）中经常发生突变的基因，它是一个单外显子基因，可能调节几种细胞外基质成分的表达。
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Brittle cornea syndrome: recognition, molecular diagnosis and management.脆骨角膜综合征：认识、分子诊断与治疗。
Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68.
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Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.锌指蛋白469基因中的有害突变会导致脆性角膜综合征。
Am J Hum Genet. 2008 May;82(5):1217-22. doi: 10.1016/j.ajhg.2008.04.001. Epub 2008 May 1.
6
Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.在一名患有埃勒斯-当洛综合征VI型变体的患者中，Alu-Alu重组导致赖氨酸羟化酶基因中的七个外显子发生重复。
Am J Hum Genet. 1994 Nov;55(5):899-906.
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Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).脆角膜、蓝色巩膜和红发综合征（脆角膜综合征）。
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Am J Pathol. 1980 Jan;98(1):225-80.
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Homograft of preserved sclera for post-traumatic scleral staphyloma in Ehlers-Danlos syndrome.保存巩膜同种异体移植治疗埃勒斯-当洛综合征创伤后巩膜葡萄肿
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