PLS3 Mutations in X-Linked Osteoporosis with Fractures

被引：153

作者：

van Dijk, Fleur S. ^{[1
]}

Zillikens, M. Carola ^{[2
]}

Micha, Dimitra ^{[1
]}

Riessland, Markus ^{[17
,18
]}

Marcelis, Carlo L. M. ^{[5
]}

de Die-Smulders, Christine E. ^{[6
]}

Milbradt, Janine ^{[17
,18
]}

Franken, Anton A. ^{[9
]}

Harsevoort, Arjan J. ^{[10
]}

Lichtenbelt, Klaske D. ^{[11
]}

Pruijs, Hans E. ^{[12
]}

Rubio-Gozalbo, M. Estela ^{[7
,8
]}

Zwertbroek, Rolf ^{[13
]}

Moutaouakil, Youssef ^{[1
]}

Egthuijsen, Jaqueline ^{[1
]}

Hammerschmidt, Matthias ^{[19
]}

Bijman, Renate ^{[1
]}

Semeins, Cor M. ^{[14
,15
]}

Bakker, Astrid D. ^{[14
,15
]}

Everts, Vincent ^{[14
,15
]}

Klein-Nulend, Jenneke ^{[14
,15
]}

Campos-Obando, Natalia ^{[2
]}

Hofman, Albert ^{[3
]}

te Meerman, Gerard J. ^{[16
]}

Verkerk, Annemieke J. M. H. ^{[2
]}

Uitterlinden, Andre G. ^{[2
,3
]}

Maugeri, Alessandra ^{[1
]}

Sistermans, Erik A. ^{[1
]}

Waisfisz, Quinten ^{[1
]}

Meijers-Heijboer, Hanne ^{[1
]}

Wirth, Brunhilde ^{[17
,18
]}

Simon, Marleen E. H. ^{[4
]}

Pals, Gerard ^{[1
]}

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Ctr Connect Tissue Res, NL-1007 MB Amsterdam, Netherlands

[2] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands

[3] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands

[4] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Dept Genet, NL-6525 ED Nijmegen, Netherlands

[6] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[7] Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, Netherlands

[8] Maastricht Univ, Med Ctr, Dept Pediat & Lab Genet Metab Dis, Maastricht, Netherlands

[9] Isala Clin Zwolle, Dept Internal Med, Zwolle, Netherlands

[10] Isala Clin Zwolle, Dept Orthoped, Zwolle, Netherlands

[11] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[12] Wilhelmina Childrens Hosp, Univ Med Ctr Utrecht, Dept Pediat Orthoped, Utrecht, Netherlands

[13] Westfries Gasthuis, Dept Internal Med, Hoorn, Netherlands

[14] Univ Amsterdam, Acad Ctr Dent Amsterdam, Dept Oral Cell Biol, Amsterdam, Netherlands

[15] Vrije Univ Amsterdam, MOVE Res Inst Amsterdam, Amsterdam, Netherlands

[16] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 AB Groningen, Netherlands

[17] Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany

[18] Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany

[19] Univ Cologne, Dept Dev Biol, D-50931 Cologne, Germany

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2013年 / 369卷 / 16期

关键词：

ACTIN; PLASTIN;

D O I：

10.1056/NEJMoa1308223

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. This variant was also associated with a risk of fracture among elderly heterozygous women that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multi-factorial osteoporosis.

引用

页码：1529 / 1536

页数：8

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