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由于I型胶原蛋白α2（I）链中第585位甘氨酸被缬氨酸替代，导致成骨不全中生长板破坏和进行性畸形。

Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.

作者信息

Cole W G, Chan D, Chow C W, Rogers J G, Bateman J F

机构信息

Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

J Med Genet. 1996 Nov;33(11):968-71. doi: 10.1136/jmg.33.11.968.

DOI:10.1136/jmg.33.11.968
PMID:8950681
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050795/
Abstract

The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.

摘要

一名患有III型成骨不全症儿童的骨骼，因I型胶原α2（I）链三螺旋结构域中第586位甘氨酸被缬氨酸取代所致，骨严重疏松，但含有板层骨和哈弗斯系统。从幼儿期开始，骨骼的结构破坏导致生长板紊乱、进行性骨骼畸形和严重生长迟缓。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/083fa2cdd883/jmedgene00265-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/54b02089c7d0/jmedgene00265-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/0cdcc5d83113/jmedgene00265-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/034443c7a2e2/jmedgene00265-0081-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/242524e9d32a/jmedgene00265-0081-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/ab099a1b5102/jmedgene00265-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/083fa2cdd883/jmedgene00265-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/54b02089c7d0/jmedgene00265-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/0cdcc5d83113/jmedgene00265-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/034443c7a2e2/jmedgene00265-0081-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/242524e9d32a/jmedgene00265-0081-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/ab099a1b5102/jmedgene00265-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/628e/1050795/083fa2cdd883/jmedgene00265-0082-b.jpg

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1
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.由于I型胶原蛋白α2（I）链中第585位甘氨酸被缬氨酸替代，导致成骨不全中生长板破坏和进行性畸形。
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2
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本文引用的文献

1
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.非致死性成骨不全中I型胶原蛋白基因（COL1A2）突变的鉴定
Hum Mol Genet. 1993 Aug;2(8):1319-21. doi: 10.1093/hmg/2.8.1319.
2
Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.原α1（I）链中甘氨酸85被缬氨酸取代导致轻度成骨不全，并增加了对蛋白酶消化的敏感性。
Eur J Biochem. 1993 Oct 1;217(1):77-82. doi: 10.1111/j.1432-1033.1993.tb18220.x.
3
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
CRTAP 突变与致死性和严重型成骨不全症：生化与分子遗传学分析相结合的重要性。
Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24.
SSCP检测到原α1（I）胶原链中Gly565Val替代导致II型成骨不全。
Hum Genet. 1993 Jun;91(5):439-44. doi: 10.1007/BF00217768.
4
Ultrastructural studies of bones from patients with osteogenesis imperfecta.成骨不全症患者骨骼的超微结构研究。
Matrix Biol. 1994 Aug;14(4):337-45. doi: 10.1016/0945-053x(94)90200-3.
5
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.I型胶原蛋白α2（I）链中一种新的G1006A替换导致III型成骨不全。
Hum Mutat. 1995;5(2):175-8. doi: 10.1002/humu.1380050212.
6
Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation.成骨不全症中的颅颈异常：遗传与分子关联
Pediatr Radiol. 1994;24(6):427-30. doi: 10.1007/BF02011910.
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Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
J Biol Chem. 1993 Nov 25;268(33):25162-7.
8
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.成骨不全症：分子缺陷与骨组织学变化的比较
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