The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

被引：43

作者：

Jobling, Rebekah ^{[1
]}

D'Souza, Rohan ^{[2
]}

Baker, Naomi ^{[3
]}

Lara-Corrales, Irene ^{[4
]}

Mendoza-Londono, Roberto ^{[1
]}

Dupuis, Lucie ^{[1
]}

Savarirayan, Ravi ^{[3
,5
]}

Ala-Kokko, L. ^{[6
]}

Kannu, Peter ^{[1
,7
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Bone Hlth Ctr, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynaecol, Div Maternal & Fetal Med, Toronto, ON M5G 1X5, Canada

[3] Univ Melbourne, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia

[4] Univ Toronto, Hosp Sick Children, Div Paediat Med, Dermatol Sect, Toronto, ON M5G 1X8, Canada

[5] Victorian Clin Genet Serv, Parkville, Vic 3052, Australia

[6] Connect Tissue Gene Tests, Allentown, PA USA

[7] Univ Toronto, Program Dev & Stem Cell Biol, Toronto, ON, Canada

来源：

CURRENT RHEUMATOLOGY REPORTS | 2014年 / 16卷 / 01期

关键词：

Collagen; Collagenopathies; Osteogenesis imperfecta; Stickler syndrome; Ehlers-Danlos syndrome; Alport syndrome; Porencephaly; Bethlemmyopathy; Ullrich congenital muscular dystrophy; Dystrophic epidermolysis bullosa; Junctional epidermolysis bullosa non-Herlitz; EHLERS-DANLOS-SYNDROME; CONGENITAL MUSCULAR-DYSTROPHY; IMPERFECTA TYPE-I; SEVERE OSTEOGENESIS IMPERFECTA; SYNDROME HYPERMOBILITY TYPE; RECESSIVE ALPORT-SYNDROME; ACHONDROGENESIS TYPE-II; EXTRACUTANEOUS MANIFESTATIONS; AUTOSOMAL-DOMINANT; STICKLER-SYNDROME;

D O I：

10.1007/s11926-013-0394-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genetic defects of collagen formation (the collagenopathies) affect almost every organ system and tissue in the body. They can be grouped by clinical phenotype, which usually correlates with the tissue distribution of the affected collagen subtype. Many of these conditions present in childhood; however, milder phenotypes presenting in adulthood are increasingly recognized. Many are difficult to differentiate clinically. Precise diagnosis by means of genetic testing assists in providing prognosis information, family counseling, and individualized treatment. This review provides an overview of the current range of clinical presentations associated with collagen defects, and the molecular mechanisms important to understanding how the results of genetic testing affect medical care.

引用

页数：13

共 101 条

[21] Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino) [J].

Dertinger, S ;

Söder, S ;

Bösch, H ;

Aigner, T .

FRONTIERS IN BIOSCIENCE-LANDMARK, 2005, 10 :446-453

[22] An unusual manifestation of bleeding diathesis in a patient with osteogenesis imperfecta [J].

Edge, G ;

Okafor, B ;

Fennelly, ME ;

Ransford, AO .

EUROPEAN JOURNAL OF ANAESTHESIOLOGY, 1997, 14 (02) :215-219

[23] Ehlers-Danlos type IV in pregnancy [J].

Erez, Y. ;

Ezra, Y. ;

Rojansky, N. .

FETAL DIAGNOSIS AND THERAPY, 2008, 23 (01) :7-9

[24] Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism [J].

Faivre, L ;

Le Merrer, M ;

Douvier, S ;

Laurent, N ;

Thauvin-Robinet, C ;

Rousseau, T ;

Vereecke, I ;

Sagot, P ;

Delezoide, AL ;

Coucke, P ;

Mortier, G .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 126A (03) :308-312

[25]

FINE JD, 2009, AM ACAD DERMATOL, V60, P203

[26] The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB [J].

Fine, Jo-David ;

Eady, Robin A. J. ;

Bauer, Eugene A. ;

Bauer, Johann W. ;

Bruckner-Tuderman, Leena ;

Heagerty, Adrian ;

Hintner, Helmut ;

Hovnanian, Alain ;

Jonkman, Marcel E. ;

Leigh, Irene ;

McGrath, John A. ;

Mellerio, Jemima E. ;

Murrell, Dedee E. ;

Shimizu, Hiroshi ;

Uitto, Jouni ;

Vahlquist, Anders ;

Woodley, David ;

Zambruno, Giovanna .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2008, 58 (06) :931-950

[27] Extracutaneous manifestations and complications of inherited epidermolysis bullosa Part I. Epithelial associated tissues [J].

Fine, Jo-David ;

Mellerio, Jemima E. .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2009, 61 (03) :367-384

[28] Extracutaneous manifestations and complications of inherited epidermolysis bullosa Part II. Other organs [J].

Fine, Jo-David ;

Mellerio, Jemima E. .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2009, 61 (03) :387-402

[29] Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs [J].

Franzke, CW ;

Tasanen, K ;

Schäcke, H ;

Zhou, ZJ ;

Tryggvason, K ;

Mauch, C ;

Zigrino, P ;

Sunnarborg, S ;

Lee, DC ;

Fahrenholz, F ;

Bruckner-Tuderman, L .

EMBO JOURNAL, 2002, 21 (19) :5026-5035

[30] ELECTRON-MICROSCOPICAL APPROACH TO A STRUCTURAL MODEL OF INTIMA COLLAGEN [J].

FURTHMAYR, H ;

WIEDEMANN, H ;

TIMPL, R ;

ODERMATT, E ;

ENGEL, J .

BIOCHEMICAL JOURNAL, 1983, 211 (02) :303-+

← 1 2 3 4 5 6 7 8 9 10 →