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Abnormal bone collagen fibril morphology

MedGen UID:
868753
•Concept ID:
C4023158
•
Anatomical Abnormality
HPO: HP:0011862

Definition

Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal bone collagen fibril morphology

Recent clinical studies

Etiology

A multiscale study of structural and compositional changes in a natural nanocomposite: Osteoporotic bone with chronic endogenous steroid excess.
Xi L, Zhang Y, Gupta H, Terrill N, Wang P, Zhao T, Fang D
Bone 2021 Feb;143:115666. Epub 2020 Sep 29 doi: 10.1016/j.bone.2020.115666. PMID: 33007528
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM
Am J Med Genet A 2014 Feb;164A(2):386-91. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36285. PMID: 24311407
Patellar tendinopathy: histopathological examination and follow-up of surgical treatment.
Pećina M, Bojanić I, Ivković A, Brčić L, Smoljanović T, Seiwerth S
Acta Chir Orthop Traumatol Cech 2010 Aug;77(4):277-83. PMID: 21059324
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
Seidler DG, Faiyaz-Ul-Haque M, Hansen U, Yip GW, Zaidi SH, Teebi AS, Kiesel L, Götte M
J Mol Med (Berl) 2006 Jul;84(7):583-94. Epub 2006 Apr 1 doi: 10.1007/s00109-006-0046-4. PMID: 16583246
A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype.
Sarathchandra P, Pope FM, Kayser MV, Ali SY
J Pathol 2000 Nov;192(3):385-95. doi: 10.1002/1096-9896(2000)9999:9999<::AID-PATH704>3.0.CO;2-U. PMID: 11054723

Diagnosis

A multiscale study of structural and compositional changes in a natural nanocomposite: Osteoporotic bone with chronic endogenous steroid excess.
Xi L, Zhang Y, Gupta H, Terrill N, Wang P, Zhao T, Fang D
Bone 2021 Feb;143:115666. Epub 2020 Sep 29 doi: 10.1016/j.bone.2020.115666. PMID: 33007528
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nüchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Mörgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D
Am J Hum Genet 2020 Nov 5;107(5):989-999. Epub 2020 Oct 13 doi: 10.1016/j.ajhg.2020.09.009. PMID: 33053334Free PMC Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM
Am J Med Genet A 2014 Feb;164A(2):386-91. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36285. PMID: 24311407
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
Christensen AE, Knappskog PM, Midtbø M, Gjesdal CG, Mengel-From J, Morling N, Rødahl E, Boman H
Invest Ophthalmol Vis Sci 2010 Jan;51(1):47-52. Epub 2009 Aug 6 doi: 10.1167/iovs.09-4251. PMID: 19661234
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC
Hum Mutat 2007 Apr;28(4):396-405. doi: 10.1002/humu.20456. PMID: 17206620

Therapy

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA
JCI Insight 2019 Jun 6;4(11) doi: 10.1172/jci.insight.126243. PMID: 31167965Free PMC Article
Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts.
Ebens CL, McGrath JA, Tamai K, Hovnanian A, Wagner JE, Riddle MJ, Keene DR, DeFor TE, Tryon R, Chen M, Woodley DT, Hook K, Tolar J
Br J Dermatol 2019 Dec;181(6):1238-1246. Epub 2019 Jun 28 doi: 10.1111/bjd.17858. PMID: 30843184Free PMC Article
Advanced glycation end products suppress lysyl oxidase and induce bone collagen degradation in a rat model of renal osteodystrophy.
Aoki C, Uto K, Honda K, Kato Y, Oda H
Lab Invest 2013 Nov;93(11):1170-83. Epub 2013 Aug 26 doi: 10.1038/labinvest.2013.105. PMID: 23979426
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, Dolan M, Blazar BR, Tolar J
N Engl J Med 2010 Aug 12;363(7):629-39. doi: 10.1056/NEJMoa0910501. PMID: 20818854Free PMC Article
Abnormal bone mineralization after fluoride treatment in osteoporosis: a small-angle x-ray-scattering study.
Fratzl P, Roschger P, Eschberger J, Abendroth B, Klaushofer K
J Bone Miner Res 1994 Oct;9(10):1541-9. doi: 10.1002/jbmr.5650091006. PMID: 7817799

Prognosis

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC
J Clin Endocrinol Metab 2016 Sep;101(9):3516-25. Epub 2016 Jul 6 doi: 10.1210/jc.2016-1334. PMID: 27383115Free PMC Article
Treatment of dystrophic epidermolysis bullosa with bone marrow non-hematopoeitic stem cells: a randomized controlled trial.
El-Darouti M, Fawzy M, Amin I, Abdel Hay R, Hegazy R, Gabr H, El Maadawi Z
Dermatol Ther 2016 Mar-Apr;29(2):96-100. Epub 2015 Oct 5 doi: 10.1111/dth.12305. PMID: 26439431
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
Christensen AE, Knappskog PM, Midtbø M, Gjesdal CG, Mengel-From J, Morling N, Rødahl E, Boman H
Invest Ophthalmol Vis Sci 2010 Jan;51(1):47-52. Epub 2009 Aug 6 doi: 10.1167/iovs.09-4251. PMID: 19661234
Fibrogenesis imperfecta ossium.
Swan CH, Shah K, Brewer DB, Cooke WT
Q J Med 1976 Apr;45(178):233-53. PMID: 1085005
The effects of Z plasty on hypertrophic scars.
Longacre JJ, Berry HK, Basom CR, Townsend SF
Scand J Plast Reconstr Surg 1976;10(2):113-28. doi: 10.3109/02844317609105199. PMID: 798261

Clinical prediction guides

Modified silk fibroin scaffolds with collagen/decellularized pulp for bone tissue engineering in cleft palate: Morphological structures and biofunctionalities.
Sangkert S, Meesane J, Kamonmattayakul S, Chai WL
Mater Sci Eng C Mater Biol Appl 2016 Jan 1;58:1138-49. Epub 2015 Sep 12 doi: 10.1016/j.msec.2015.09.031. PMID: 26478414
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
Cabral WA, Perdivara I, Weis M, Terajima M, Blissett AR, Chang W, Perosky JE, Makareeva EN, Mertz EL, Leikin S, Tomer KB, Kozloff KM, Eyre DR, Yamauchi M, Marini JC
PLoS Genet 2014 Jun;10(6):e1004465. Epub 2014 Jun 26 doi: 10.1371/journal.pgen.1004465. PMID: 24968150Free PMC Article
Advanced glycation end products suppress lysyl oxidase and induce bone collagen degradation in a rat model of renal osteodystrophy.
Aoki C, Uto K, Honda K, Kato Y, Oda H
Lab Invest 2013 Nov;93(11):1170-83. Epub 2013 Aug 26 doi: 10.1038/labinvest.2013.105. PMID: 23979426
Unexpected ultrastructral changes in bone osteiod collagens in osteogenesis imperfecta.
Sarathchandra P, Pope FM
Micron 2005;36(7-8):696-702. Epub 2005 Sep 7 doi: 10.1016/j.micron.2005.07.011. PMID: 16182545
A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype.
Sarathchandra P, Pope FM, Kayser MV, Ali SY
J Pathol 2000 Nov;192(3):385-95. doi: 10.1002/1096-9896(2000)9999:9999<::AID-PATH704>3.0.CO;2-U. PMID: 11054723

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