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Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.LRP5 引起高骨量的新型家族性突变：遗传分析、临床表现和骨基质矿化特征。
Bone. 2018 Feb;107:154-160. doi: 10.1016/j.bone.2017.12.002. Epub 2017 Dec 5.
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LRP5: From bedside to bench to bone.LRP5：从床边到实验台再到骨骼。
Bone. 2017 Sep;102:26-30. doi: 10.1016/j.bone.2017.03.044. Epub 2017 Mar 21.
3
International Osteoporosis Foundation and European Calcified Tissue Society Working Group. Recommendations for the screening of adherence to oral bisphosphonates.国际骨质疏松症基金会和欧洲钙化组织协会工作组。口服双膦酸盐依从性筛查建议。
Osteoporos Int. 2017 Mar;28(3):767-774. doi: 10.1007/s00198-017-3906-6. Epub 2017 Jan 16.
4
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes.特发性青少年骨质疏松症：单中心临床经验及LRP5和LRP6基因筛查
Calcif Tissue Int. 2015 Jun;96(6):575-9. doi: 10.1007/s00223-015-9983-7. Epub 2015 Mar 18.
5
Wnt signalling in osteoporosis: mechanisms and novel therapeutic approaches.Wnt 信号通路在骨质疏松症中的作用机制及新型治疗策略
Nat Rev Endocrinol. 2013 Oct;9(10):575-83. doi: 10.1038/nrendo.2013.154. Epub 2013 Aug 13.
6
Lrp5 and Lrp6 exert overlapping functions in osteoblasts during postnatal bone acquisition.Lrp5 和 Lrp6 在骨细胞中发挥重叠功能，促进出生后骨量的获得。
PLoS One. 2013 May 10;8(5):e63323. doi: 10.1371/journal.pone.0063323. Print 2013.
7
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.WNT1 突变与中度严重和进行性隐性成骨不全症家族相关。
Am J Hum Genet. 2013 Apr 4;92(4):590-7. doi: 10.1016/j.ajhg.2013.02.009. Epub 2013 Mar 14.
8
Inactivation of Lrp5 in osteocytes reduces young's modulus and responsiveness to the mechanical loading.成骨细胞中 Lrp5 的失活降低了杨氏模量和对机械加载的响应。
Bone. 2013 May;54(1):35-43. doi: 10.1016/j.bone.2013.01.033. Epub 2013 Jan 26.
9
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.LRP5 基因突变通过降低 Wnt 信号活性导致不伴有 OI 特征的原发性骨质疏松症。
BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.
10
Wnt receptors, bone mass, and fractures: gene-wide association analysis of LRP5 and LRP6 polymorphisms with replication.Wnt 受体、骨量和骨折：LRP5 和 LRP6 多态性的全基因组关联分析及其复制。
Eur J Endocrinol. 2011 Jan;164(1):123-31. doi: 10.1530/EJE-10-0582. Epub 2010 Oct 6.

因LRP5受体变异突变导致儿童期起病骨折病史的成人骨质疏松症。

ADULT OSTEOPOROSIS WITH A HISTORY OF CHILDHOOD-ONSET FRACTURE DUE TO AN LRP5 RECEPTOR VARIANT MUTATION.

作者信息

Shin Terry, Shapiro Jay R

出版信息

AACE Clin Case Rep. 2019 Aug 15;5(6):e362-e364. doi: 10.4158/ACCR-2019-0219.R1. eCollection 2019 Nov-Dec.

DOI:10.4158/ACCR-2019-0219.R1
PMID:31967071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6873838/
Abstract

OBJECTIVE

This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures.

METHODS

Case report and review of the literature.

RESULTS

A 52-year-old Caucasian female with idiopathic osteoporosis with recurrent fractures was identified with a heterozygous low-density lipoprotein receptor related protein 5 (LRP5) mutation.

CONCLUSION

This case highlights the variability in clinical expression of LRP5 polymorphisms and suggests that standard treatment in cases of recurrent fracture may be ineffective.

摘要

目的

本病例突出了对复发性骨折的特发性骨质疏松症进行基因筛查的价值。

方法

病例报告及文献复习。

结果

一名52岁患有复发性骨折的特发性骨质疏松症的白种女性被鉴定出存在杂合性低密度脂蛋白受体相关蛋白5（LRP5）突变。

结论

本病例突出了LRP5多态性临床表达的变异性，并提示复发性骨折病例的标准治疗可能无效。