The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
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三名因 I 型前胶原蛋白原 α1 (I) 链中甘氨酸被缬氨酸取代而导致成骨不全的婴儿的临床病理特征。
DOI：
10.1136/jmg.29.2.112
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发表时间：
1992
影响因子：
4
通讯作者：
Fortune,DW
中科院分区：
文献类型：
--
作者：
Cole,WG;Patterson,E;Bonadio,J;Campbell,PE;Fortune,DW
研究了三名患有围产期致死性成骨不全症 (OI II) 的婴儿的特征，这些婴儿因 I 型胶原蛋白 α 1(I) 链的三螺旋结构域中的甘氨酸被缬氨酸取代而导致。病例 1 (OI35) 中的残基 1006、病例 2 (OI59) 中的残基 973 和病例 3 (OI7B) 中的残基 256 处的替换对于婴儿来说是杂合的。 OI35具有最严重的临床形式，OI IIC，伴有胎膜早破、严重产前出血、死产、严重短肢侏儒症和极度骨质疏松。 OI59是一个发育较好的婴儿，但由于胎膜早破和严重的产前出血，也导致早产。她具有 OI IIA 的放射学特征。 OI7B 足月出生，也具有 OI IIA 的放射学特征。 OI35和OI59骨骼的病理检查显示膜内和软骨内骨化严重缺陷。长骨和椎骨中骨小梁稀疏。小梁包含软骨核心和覆盖的编织骨或类骨质层。骨干缺乏皮质骨。 OI35 的骨膜成纤维细胞含有严重扩张的粗面内质网，这与培养的真皮成纤维细胞胶原蛋白分泌减少 53% 一致。 OI35 和 OI59 的主动脉、皮肤和肺发育不全。本研究的结果表明，α 1(I) 链三螺旋结构域的 Gly-X-Y 三联体（从甘氨酸 256 到甘氨酸 1006）中被缬氨酸取代的甘氨酸产生了 OI II 表型。羧基末端取代最多的婴儿的表型最为严重。
The features of three babies with perinatal lethal osteogenesis imperfecta (OI II) resulting from substitutions of glycine by valine in the triple helical domain of the alpha 1(I) chain of type I collagen were studied. The babies were heterozygous for this substitution at residue 1006 in case 1 (OI35), 973 in case 2 (OI59), and 256 in case 3 (OI7B). OI35 had the most severe clinical form, OI IIC, with premature rupture of membranes, severe antepartum haemorrhage, stillbirth, severe short limbed dwarfism, and extreme osteoporosis. OI59 was a better formed baby but was also born prematurely as a result of premature rupture of membranes and severe antepartum haemorrhage. She had the radiographic features of OI IIA. OI7B was born at term and also had the radiographic features of OI IIA. Pathological examination of the skeletons of OI35 and OI59 showed grossly deficient intramembranous and endochondral ossification. Trabecular bone was sparse in the long bones and vertebrae. The trabeculae contained a cartilage core and an overlying layer of woven bone or osteoid. The diaphyses lacked cortical bone. The periosteal fibroblasts of OI35 contained grossly distended rough endoplasmic reticulum consistent with the 53% reduction in collagen secretion by cultured dermal fibroblasts. The aorta, skin, and lungs were hypoplastic in OI35 and OI59. The findings in this study show that glycine substitutions by valine in Gly-X-Y triplets, from glycine 256 to glycine 1006, of the triple helical domain of alpha 1(I) chains produce the OI II phenotype. The phenotype was most severe in the baby with the most carboxy-terminal substitution.
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DOI：
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三名因 I 型原胶原蛋白原 α1(I) 链中甘氨酸被精氨酸取代而导致成骨不全的婴儿的临床特征。
影响因子：
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W. Cole;C. W. Chow;J. Rogers;J. Bateman
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10.1016/s0021-9258(18)37416-7
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影响因子：
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