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COL1A1 Associated Connective Tissue Disorder

MedGen UID:
396965
Concept ID:
C2698737
Disease or Syndrome
 

Definition

A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis. [from NCI]

Recent clinical studies

Etiology

Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Åström E, Malmgren B
PLoS One 2017;12(5):e0176466. Epub 2017 May 12 doi: 10.1371/journal.pone.0176466. PMID: 28498836Free PMC Article
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS
Hum Genet 2016 May;135(5):525-40. Epub 2016 Mar 29 doi: 10.1007/s00439-016-1660-z. PMID: 27023906
Sato A, Ouellet J, Muneta T, Glorieux FH, Rauch F
Bone 2016 May;86:53-7. Epub 2016 Feb 27 doi: 10.1016/j.bone.2016.02.018. PMID: 26927310
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
Ben Amor IM, Roughley P, Glorieux FH, Rauch F
J Bone Miner Res 2013 Sep;28(9):2001-7. doi: 10.1002/jbmr.1942. PMID: 23529829

Diagnosis

Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Åström E, Malmgren B
PLoS One 2017;12(5):e0176466. Epub 2017 May 12 doi: 10.1371/journal.pone.0176466. PMID: 28498836Free PMC Article
Xia XY, Li WW, Li N, Wu QY, Cui YX, Li XJ
Mol Med Rep 2014 Jun;9(6):2187-90. Epub 2014 Mar 28 doi: 10.3892/mmr.2014.2084. PMID: 24682174
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
Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L
Hum Mutat 2004 Aug;24(2):147-54. doi: 10.1002/humu.20071. PMID: 15241796
Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M
Am J Med Genet A 2004 Apr 30;126A(3):221-8. doi: 10.1002/ajmg.a.20589. PMID: 15054833

Therapy

Usta A, Karademir D, Sen E, Yazici S, Adali E, Erdem E, Karacan M
Pan Afr Med J 2017;27:198. Epub 2017 Jul 14 doi: 10.11604/pamj.2017.27.198.12295. PMID: 28904723Free PMC Article
Boraschi-Diaz I, Tauer JT, El-Rifai O, Guillemette D, Lefebvre G, Rauch F, Ferron M, Komarova SV
J Endocrinol 2017 Sep;234(3):279-289. Epub 2017 Jul 17 doi: 10.1530/JOE-17-0335. PMID: 28716975
Sato A, Ouellet J, Muneta T, Glorieux FH, Rauch F
Bone 2016 May;86:53-7. Epub 2016 Feb 27 doi: 10.1016/j.bone.2016.02.018. PMID: 26927310
Palomo T, Al-Jallad H, Moffatt P, Glorieux FH, Lentle B, Roschger P, Klaushofer K, Rauch F
Bone 2014 Oct;67:63-70. Epub 2014 Jul 8 doi: 10.1016/j.bone.2014.06.041. PMID: 25010833
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C
Am J Hum Genet 2012 Aug 10;91(2):349-57. Epub 2012 Aug 2 doi: 10.1016/j.ajhg.2012.06.011. PMID: 22863195Free PMC Article

Prognosis

Sato A, Ouellet J, Muneta T, Glorieux FH, Rauch F
Bone 2016 May;86:53-7. Epub 2016 Feb 27 doi: 10.1016/j.bone.2016.02.018. PMID: 26927310
Lu Y, Ren X, Wang Y, Li T, Li F, Wang S, Xu C, Wu G, Li H, Li G, Zhao F, Wang Z, Mo X, Han J
Clin Endocrinol (Oxf) 2014 Apr;80(4):524-31. Epub 2014 Jan 12 doi: 10.1111/cen.12354. PMID: 24147872
Nwosu BU, Raygada M, Tsilou ET, Rennert OM, Stratakis CA
Ophthalmic Genet 2005 Sep;26(3):135-8. doi: 10.1080/13816810500228993. PMID: 16272059
Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L
Hum Mutat 2004 Aug;24(2):147-54. doi: 10.1002/humu.20071. PMID: 15241796
Mooney SD, Klein TE
Mol Cell Proteomics 2002 Nov;1(11):868-75. PMID: 12488462

Clinical prediction guides

Xia XY, Li WW, Li N, Wu QY, Cui YX, Li XJ
Mol Med Rep 2014 Jun;9(6):2187-90. Epub 2014 Mar 28 doi: 10.3892/mmr.2014.2084. PMID: 24682174
Ben Amor IM, Roughley P, Glorieux FH, Rauch F
J Bone Miner Res 2013 Sep;28(9):2001-7. doi: 10.1002/jbmr.1942. PMID: 23529829
Liu W, Gu F, Ji J, Lu D, Li X, Ma X
Mol Vis 2007 Mar 9;13:360-5. PMID: 17392686Free PMC Article
De Coster PJ, Cornelissen M, De Paepe A, Martens LC, Vral A
Arch Oral Biol 2007 Feb;52(2):101-9. Epub 2006 Nov 21 doi: 10.1016/j.archoralbio.2006.08.007. PMID: 17118335
Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L
Hum Mutat 2004 Aug;24(2):147-54. doi: 10.1002/humu.20071. PMID: 15241796

Recent systematic reviews

Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F
Hum Mutat 2014 Nov;35(11):1330-41. Epub 2014 Oct 18 doi: 10.1002/humu.22677. PMID: 25146735

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