Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

Human Mutation

Volumn 36, Issue 10, 2015, Pages 1004-1008

  Jurgens, Julie ^a   Sobreira, Nara ^a   Modaff, Peggy ^b   Reiser, Catherine A ^b   Seo, Soo Hyun ^c   Seong, Moon Woo ^c   Park, Sung Sup ^c   Kim, Ok Hwa ^d   Cho, Tae Joon ^e   Pauli, Richard M ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c Seoul National University Hospital   (South Korea)

^d Woorisoa Children s Hospital   (South Korea)

^e Seoul National University College of Medicine   (South Korea)

Author keywords

PPRD; SED; Skeletal dysplasia; Spondyloepiphyseal dysplasia tarda with progressive arthropathy; Stanescu; Type II collagenopathy

Indexed keywords

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; COL2A1 GENE; FEMALE; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MEDICAL HISTORY; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA STANESCU TYPE; ADOLESCENT; CHILD; CHONDRODYSPLASIA; DIAGNOSTIC IMAGING; DNA SEQUENCE; EXOME; GENETICS; JOINT DISEASES; MALE; PEDIGREE; PROCEDURES; RADIOGRAPHY; SINGLE NUCLEOTIDE POLYMORPHISM;

COL2A1 PROTEIN, HUMAN; COLLAGEN TYPE 2;

ADOLESCENT; ADULT; CHILD; COLLAGEN TYPE II; EXOME; FEMALE; HUMANS; JOINT DISEASES; MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RADIOGRAPHY; SEQUENCE ANALYSIS, DNA;

EID: 84941874960     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22839     Document Type: Article

References (18)

1. Barber T, Esteban-Pretel G, Marin MP, Timoneda J. 2014. Vitamin A deficiency and alterations in the extracellular matrix. Nutrients 6:4984-5017.
2. Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. 2013. Early childhood presentation of Czech dysplasia. Clin Dysmorphol 22:76-80.
3. Dalal A, Bhavani GSL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, et al. 2012. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A 158A:2820-2828.
4. Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Mégarbané A. 2005. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. Am J Med Genet A 138A:118-126.
5. Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, et al. 2012. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C 15:217-229.
6. Hurvitz JR, Suwairi WM, VanHul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, VanHul E, Rezai-Delui H, Legius E, et al. 1999. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 23:94-98.
7. Marik I, Marikova O, Zemkova D, Kuklik M, Kozlowski K. 2004. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol 33:157-164.
8. Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). Accessed October, 2013, at: http://omim.org/.
9. Nishimura G, Saitoh Y, Okuzumi S, Imaizumi K, Hayasaka K, Hashimoto M. 1998. Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type. Skeletal Radiol 27:188-194.
10. Rukavina I, Mortier G, VanLaer L, Frković M, Dapić T, Jelušić M. 2014. Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement. Semin Arthritis Rheu 44:101-104.
11. Sen M, Cheng Y, Goldring MB, Lotz MK, Carson DA. 2004. WISP3-dependent regulation of type II collagen and aggrecan production in chondrocytes. Arthritis Rheum 50:488-497.
12. Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. 2015. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 36:425-431.
13. Stanescu R, Stanescu V, Maroteaux P. 1984. Dysplasie Spondylo-epiphysaire avec accumulation de glycoproteines dans les chondrocytes. Arch Fr Pediatr 41:185-189.
14. Sun J, Xia W, He S, Zhao Z, Nie M, Li M, Jiang Y, Xing X, Wang O, Meng X, Zhou X. 2012. Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. PLoS One 7:e38643.
15. Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK. 2011. A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy. J Pediatr Endocrinol Metab 1-2:105-108.
16. Wang M, Man XF, Liu YQ, Liao EY, Shen ZF, Luo XH, Guo LJ, Wu XP, Zhou HD. 2013. Dysfunction of collagen synthesis and secretion in chondrocytes induced by Wisp3 mutation. Int J Endocrinol 2013:679763.
17. Yue H, Zhang ZL, He JW. 2009. Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. Bone 44:547-554.
18. Zhou HD, Bu YH, Peng YQ, Xie H, Wang M, Yuan LQ, Jiang Y, Li D, Wei QY, He YL, Xiao T, Ni JD, Liao EY. 2007. Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. J Mol Med 85:985-996.