The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation
The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation
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DOI：
10.1016/j.gene.2014.01.033
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发表时间：
2014-03-15
期刊：
影响因子：
3.5
通讯作者：
Hashimoto, Takashi
中科院分区：
文献类型：
--
作者：
Hatamochi, Atsushi;Hamada, Takahiro;Hashimoto, Takashi
这是第一次报告的日本病例关节松弛型埃勒斯-当洛斯综合征（EDS）。一位46岁的女性在出生后不久就因关节过度活动和皮肤过度伸展而咨询我们。没有类似疾病的家族史。她在童年时被诊断为双侧先天性髋关节脱位和双侧习惯性肩关节脱位。她的皮肤像天鹅绒般柔软，柔软而易伸展。她表现出手脚关节活动过度和全身关节松弛，没有脊柱侧凸的证据。胶原蛋白的电泳分析显示，来自患者成纤维细胞培养基的样本中pN alpha 2（I）位置存在额外条带。对I型胶原基因COL 1A 2 α 2链的分析显示，在外显子6供体剪接位点的+1位置处存在杂合G到T的转换（c.279+1G>T）。该突变导致外显子6的跳跃，这导致I型胶原蛋白的pro α 2（I）链的氨基末端的加工缺陷。根据这些发现，我们诊断为EDS的关节松弛症型，其对应于前一分类中的EDS VIIB型。(C)2014爱思唯尔有限公司版权所有。
This is the first report for a Japanese case of arthrochalasia type of Ehlers-Danlos syndrome (EDS). A 46-year-old woman consulted us for joint hypermobility and skin hyperextensibility that had been present soon after birth. There was no family history of a similar disease. She was diagnosed as having bilateral congenital hip dislocation and bilateral habitual shoulder dislocation at her childhood. Her skin was velvety, doughy and hyperextensible. She showed hypermobility of the joints of the hands and feet and generalized joint laxity, with no evidence of scoliosis. Electrophoretic analysis of collagenous proteins revealed the presence of an additional band in the position of pN alpha 2(I) in the sample from culture medium of the patient fibroblasts. Analysis of the alpha 2 chains of type I collagen gene, COL1A2, showed a heterozygous G to T transition at the +1 position of the exon 6 donor splice site (c.279+1G>T). This mutation resulted in skipping of exon 6, which leads to deficient processing of the amino-terminal end of pro alpha 2(I) chains of type I collagen. Based on these findings, we made a diagnosis of the arthrochalasia type of EDS, which corresponds to EDS type VIIB in the former classification. (C) 2014 Elsevier B.V. All rights reserved.