Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

被引：2

作者：

Takagi M. ^{[1
,2
]}

Matsushita M. ^{[3
]}

Nishimura G. ^{[4
]}

Hasegawa T. ^{[1
]}

机构：

[1] Department of Pediatrics, Keio University School of Medicine, Tokyo

[2] Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo

[3] Department of Obstetrics and Perinatology, Maternal and Perinatal Care Center, Seirei Hamamatsu General Hospital, Shizuoka

[4] Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo

来源：

Human Genome Variation | / 1卷 / 1期

关键词：

D O I：

10.1038/hgv.2014.25

中图分类号：

学科分类号：

摘要：

Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1. OI IIC seems to be caused by a dominant mutation of COL1A1. © 2014 The Japan Society of Human Genetics All rights reserved.

引用

共 14 条

[1]

Marini J.C., Blissett A.R., New genes in bone development: What's new in osteogenesis imperfecta, J Clin Endocrinol Metab, 98, pp. 3095-3103, (2013)

[2]

Sillence D.O., Senn A., Danks D.M., Genetic heterogeneity in osteogenesis imperfecta, J Med Genet, 16, pp. 101-116, (1979)

[3]

Spranger J., Osteogenesis imperfecta: A pasture for splitters and lumpers. (Editorial), Am J Med Genet, 17, pp. 425-428, (1984)

[4]

Thompson E.M., Young I.D., Hall C.M., Pembrey M.E., Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta, J Med Genet, 24, pp. 390-405, (1987)

[5]

Van Der Harten H.J., Brons J.T., Dijkstra P.F., Meijer C.J., Van Geijn H.P., Arts N.F., Et al., Perinatal lethal osteogenesis imperfecta: Radiologic and pathologic evaluation of seven prenatally diagnosed cases, Pediatr Pathol, 8, pp. 233-252, (1988)

[6]

Sillence D.O., Barlow K.K., Garber A.P., Hall J.G., Rimoin D.L., Osteogenesis imperfecta type II: Delineation of the phenotype with reference to genetic heterogeneity, Am J Med Genet, 17, pp. 407-423, (1984)

[7]

Pace J.M., Chitayat D., Atkinson M., Wilcox W.R., Schwarte U., Byers P.H., A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases, J Med Genet, 39, pp. 23-29, (2002)

[8]

Takagi M., Hori N., Chinen Y., Kurosawa K., Tanaka Y., Oku K., Et al., Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant, Am J Med Genet, 155, pp. 2269-2273, (2011)

[9]

Chessler S.D., Wallis G.A., Byers P.H., Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta, J Biol Chem, 268, pp. 18218-18225, (1993)

[10]

Lamande S.R., Chessler S.D., Golub S.B., Byers P.H., Chan D., Cole W.G., Et al., Endoplasmic reticulum-mediated quality control of type I collagen production by cells from 3 osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly, J Biol Chem, 270, pp. 8642-8649, (1995)

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