The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.
The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.
复制标题
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。
DOI：
10.1136/jmg.27.4.228
复制
发表时间：
1990
影响因子：
4
通讯作者：
J. Bateman
中科院分区：
文献类型：
--
作者：
W. Cole;C. W. Chow;J. Rogers;J. Bateman
本文报道了三例因Ⅰ型前胶原α 1（Ⅰ）前链甘氨酸被精氨酸取代而引起的围产期骨生成障碍的婴儿。在病例1（0 I24）、病例2（0 I51）和病例3（0 I30）中，婴儿在391位残基、667位残基和976位残基处的这种替换是杂合的。他们都是小的足月婴儿，出生后不久就死了。0 I24的肋骨宽且连续呈串珠状，0 I51的肋骨呈不连续串珠状，0 I30的肋骨细长且几乎没有骨折。总体影像学分类为0 I24的IIA型、0 I51的IIA/IIB型和0 I30的IIB型。组织学检查证实长骨畸形和多孔。钙化的软骨小梁被异常薄的类骨质覆盖，骨小梁薄且嗜碱性。没有板层骨或哈弗系统的证据。成骨细胞保持相对较大且紧密间隔。这些婴儿具有许多共同的表型特征，但肋骨和长骨的X线摄影外观差异表明，从0 I30中的细长和过度建模骨骼到0 I24中的建模缺失，存在骨骼建模能力的梯度。
The features of three babies with lethal perinatal osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen were studied. The babies were heterozygous for this substitution at residue 391 in case 1 (0I24), 667 in case 2 (0I51), and 976 in case 3 (0I30). They were all small, term babies who died soon after birth. The ribs were broad and continuously beaded in 0I24, discontinuously beaded in 0I51, and slender with few fractures in 0I30. The overall radiographical classifications were type IIA in 0I24, IIA/IIB in 0I51, and IIB in 0I30. Histological examination confirmed that the long bones were misshapen and porotic. The calcified cartilage trabeculae were covered with an abnormally thin layer of osteoid and the bone trabeculae were thin and basophilic. There was no evidence of lamellar bone or Haversian systems. The osteoblasts remained relatively large and closely spaced. These babies shared many phenotypic features, but differences in the radiographical appearance of the ribs and long bones suggested that there was a gradient of bone modelling capacity from the slender and overmodelled bones in 0I30 to the absence of modelling in 0I24.
登录
查看更多内容
DOI：
10.1172/jci114286
发表时间：
1989
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Starman,BJ;Eyre,D;Charbonneau,H;Harrylock,M;Weis,MA;Weiss,L;GrahamJr,JM;Byers,PH
通讯作者：
Byers,PH
DOI：
10.1016/s0021-9258(18)37416-7
发表时间：
1988-12
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
B. Vogel;R. Doelz;K. Kadler;Y. Hojima;J. Engel;D. Prockop
通讯作者：
B. Vogel;R. Doelz;K. Kadler;Y. Hojima;J. Engel;D. Prockop
I 型胶原蛋白 α1(I) 基因的一个等位基因产物的三螺旋结构域中的半胱氨酸会产生致命的成骨不全症。
DOI：
--
发表时间：
1984
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Steinmann,B;Rao,VH;Vogel,A;Bruckner,P;Gitzelmann,R;Byers,PH
通讯作者：
Byers,PH
核心家族中成骨不全症的可变表达可以通过亲本中 I 型胶原的 α 1(I) 基因 (COL1A1) 的致命点突变的体细胞嵌合来解释。
影响因子：
9.8
作者：
Wallis,GA;Starman,BJ;Zinn,AB;Byers,PH
通讯作者：
Byers,PH
DOI：
10.1016/s0021-9258(18)68560-6
发表时间：
1988-06
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
R. Wenstrup;D. Cohn;T. Cohen;P. Byers
通讯作者：
R. Wenstrup;D. Cohn;T. Cohen;P. Byers