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Type II Collagenopathies

MedGen UID:
431606
•Concept ID:
CN043672
•
Disease or Syndrome
Related genes: TRPV4, PAM16, GPX4, FN1, COL2A1, CFAP410, ACP5

Authors:
Pernille Axél Gregersen  |  Ravi Savarirayan   view full author information

Term Hierarchy

Professional guidelines

PubMed

Prenatal diagnosis of bone dysplasias.
Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M
Br J Radiol 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025. PMID: 37351952Free PMC Article

Recent clinical studies

Etiology

Radiologic Features of Type II and Type XI Collagenopathies.
Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Skeletal dysplasias.
Krakow D
Clin Perinatol 2015 Jun;42(2):301-19, viii. Epub 2015 Apr 8 doi: 10.1016/j.clp.2015.03.003. PMID: 26042906Free PMC Article
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A
Am J Med Genet A 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. PMID: 15643621
The cervical spine in the skeletal dysplasias and associated disorders.
Lachman RS
Pediatr Radiol 1997 May;27(5):402-8. doi: 10.1007/s002470050156. PMID: 9133351
Type II collagenopathies: are there additional family members?
Freisinger P, Bonaventure J, Stoess H, Pontz BF, Emmrich P, Nerlich A
Am J Med Genet 1996 May 3;63(1):137-43. doi: 10.1002/(SICI)1096-8628(19960503)63:1<137::AID-AJMG24>3.0.CO;2-O. PMID: 8723099

Diagnosis

Radiologic Features of Type II and Type XI Collagenopathies.
Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC
Am J Med Genet A 2017 Mar;173(3):733-739. Epub 2016 Nov 26 doi: 10.1002/ajmg.a.38059. PMID: 27888646Free PMC Article
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I
Hum Mutat 2016 Jan;37(1):7-15. Epub 2015 Oct 21 doi: 10.1002/humu.22915. PMID: 26443184
Skeletal dysplasias.
Krakow D
Clin Perinatol 2015 Jun;42(2):301-19, viii. Epub 2015 Apr 8 doi: 10.1016/j.clp.2015.03.003. PMID: 26042906Free PMC Article
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B
Eur J Pediatr 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. PMID: 8157027

Prognosis

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S
Genes (Basel) 2022 Jan 13;13(1) doi: 10.3390/genes13010137. PMID: 35052477Free PMC Article
De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
Zhang T, Sun X, Li M, Huang H
Bone 2021 Dec;153:116169. Epub 2021 Sep 4 doi: 10.1016/j.bone.2021.116169. PMID: 34492360
Association between Kniest dysplasia and chondrosarcoma in a child.
Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P
Am J Med Genet A 2015 Dec;167A(12):3204-8. Epub 2015 Sep 8 doi: 10.1002/ajmg.a.37361. PMID: 26345137
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A
Am J Med Genet A 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. PMID: 15643621
Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.
Spranger J
J Inherit Metab Dis 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. PMID: 11405334

Clinical prediction guides

De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
Zhang T, Sun X, Li M, Huang H
Bone 2021 Dec;153:116169. Epub 2021 Sep 4 doi: 10.1016/j.bone.2021.116169. PMID: 34492360
Ophthalmic and molecular genetic findings in Kniest dysplasia.
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122Free PMC Article
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A
Am J Med Genet A 2013 Oct;161A(10):2645-51. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36132. PMID: 23956136
Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.
Spranger J
J Inherit Metab Dis 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. PMID: 11405334
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH
Hum Mol Genet 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. PMID: 7757081

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