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首页> 外文OA文献 >The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
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The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.

机译：I型胶原蛋白的非功能性羧基末端pro alpha 1（I）前肽和组织中正常I型胶原蛋白的严重缺乏引起的成骨不全症的临床特征。

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摘要

The features of a baby with lethal perinatal osteogenesis imperfecta (OI II), owing to a frameshift mutation that resulted in the production of a truncated and functionless carboxy terminal propeptide of the pro alpha 1(I) chain of type I procollagen, were studied. The baby (OI26) was heterozygous for an insertion of a single uridine nucleotide after base pair 4088 of the prepro alpha 1(I) mRNA of type I procollagen. Only normal type I collagen was incorporated into the extracellular matrix of bone and dermis resulting in a type I collagen content of about 20% of control tissues. The baby was born at 35 weeks' gestation and died shortly afterwards. He was small and had the radiographical features most like those of OI IIB. The skeleton was poorly ossified. The ribs were discontinuously beaded and the femora were broad with multiple healed fractures of the diaphyses and metaphyses. Other long bones had broad metaphyses with overmodelled diaphyses. The calvarium contained many hundreds of wormian bones. Histological examination showed grossly deficient endochondral and intramembranous ossification. The bone was of a woven type without evidence of lamellar bone or Haversian systems and the osteoblasts did not mature into osteocytes. The cortex of the femur contained Haversian canals but they were surrounded by loose collagen fibres and a mosaic pattern of woven bone and islands of cartilage. We propose that OI IIB can be sub-classified into two groups, one with helical mutations and both normal and mutant type I collagen in the tissues, and the other with carboxy terminal propeptide mutations and a severe type I collagen deficiency, but without mutant collagen in the tissues.
机译：研究了婴儿致死的围产期成骨不全症（OI II）的特征，该突变是由于移码突变导致I型胶原蛋白的亲α1（I）链截短且无功能的羧基末端前肽的产生而引起的。婴儿（OI26）在I型胶原蛋白原propro alpha 1（I）mRNA的碱基对4088之后插入单个尿苷核苷酸时是杂合的。仅将正常的I型胶原蛋白掺入骨骼和真皮的细胞外基质中，导致I型胶原蛋白含量约为对照组织的20％。婴儿在妊娠35周时出生，不久后死亡。他很小，放射照相特征最像OI IIB。骨骼骨化不良。肋骨不连续串珠，股骨宽阔，有多个干dia端和干meta端愈合的骨折。其他长骨具有广泛的干meta端和过度建模的干phy端。颅骨包含数百个蠕虫骨头。组织学检查显示软骨内和膜内骨化严重不足。骨骼为编织类型，没有层状骨骼或Haversian系统的证据，成骨细胞未成熟为骨细胞。股骨皮层具有哈弗斯管，但被松散的胶原纤维，编织的骨头和软骨岛组成的镶嵌图案所包围。我们建议将OI IIB分为两类，一组具有螺旋突变，组织中既有正常I型胶原又有突变型I型胶原，另一组具有羧基末端前肽突变且严重的I型胶原缺乏，但没有突变型胶原在组织中。

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