- About this Journal ·
- Abstracting and Indexing ·
- Aims and Scope ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
Volume 2015 (2015), Article ID 828970, 9 pages
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
Received 15 June 2015; Revised 1 September 2015; Accepted 10 September 2015
Academic Editor: Ralf Lichtinghagen
Copyright © 2015 Delfien Syx et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- A. Hakim and R. Grahame, “Joint hypermobility,” Best Practice & Research Clinical Rheumatology, vol. 17, no. 6, pp. 989–1004, 2003.
- A. J. Hakim, L. F. Cherkas, R. Grahame, T. D. Spector, and A. J. MacGregor, “The genetic epidemiology of joint hypermobility: a population study of female twins,” Arthritis & Rheumatism, vol. 50, no. 8, pp. 2640–2644, 2004.
- P. Beighton, A. De Paepe, B. Steinmann, P. Tsipouras, and R. J. Wenstrup, “Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997,” American Journal of Medical Genetics, vol. 77, no. 1, pp. 31–37, 1998.
- R. Grahame, H. A. Bird, A. Child et al., “The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS),” The Journal of Rheumatology, vol. 27, no. 7, pp. 1777–1779, 2000.
- J. Kirschner, I. Hausser, Y. Zou et al., “Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes,” American Journal of Medical Genetics A, vol. 132, no. 3, pp. 296–301, 2005.
- M. C. Zweers, J. Bristow, P. M. Steijlen et al., “Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome,” American Journal of Human Genetics, vol. 73, no. 1, pp. 214–217, 2003.
- M. C. Zweers, W. B. Dean, T. H. van Kuppevelt, J. Bristow, and J. Schalkwijk, “Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations,” Clinical Genetics, vol. 67, no. 4, pp. 330–334, 2005.
- C. Giunta, N. H. Elçioglu, B. Albrecht et al., “Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13,” American Journal of Human Genetics, vol. 82, no. 6, pp. 1290–1305, 2008.
- T. Fukada, N. Civic, T. Furuichi et al., “The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; Its involvement in BMP/TGF-β signaling pathways,” PLoS ONE, vol. 3, no. 11, article e3642, 2008.
- M. Baumann, C. Giunta, B. Krabichler et al., “Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,” The American Journal of Human Genetics, vol. 90, no. 2, pp. 201–216, 2012.
- F. Malfait, A. Kariminejad, T. Van Damme et al., “Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder,” American Journal of Human Genetics, vol. 92, no. 6, pp. 935–945, 2013.
- F. Malfait, D. Syx, P. Vlummens et al., “Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene,” Human Mutation, vol. 31, no. 11, pp. 1233–1239, 2010.
- T. Müller, S. Mizumoto, I. Suresh et al., “Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome,” Human Molecular Genetics, vol. 22, no. 18, pp. 3761–3772, 2013.
- L. Nuytinck, R. Dalgleish, L. Spotila, J.-P. Renard, N. Van Regemorter, and A. De Paepe, “Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes,” Human Genetics, vol. 97, no. 3, pp. 324–329, 1996.
- L.-C. Tranchevent, R. Barriot, S. Yu et al., “ENDEAVOUR update: a web resource for gene prioritization in multiple species,” Nucleic Acids Research, vol. 36, pp. W377–W384, 2008.
- E. A. Adie, R. R. Adams, K. L. Evans, D. J. Porteous, and B. S. Pickard, “SUSPECTS: enabling fast and effective prioritization of positional candidates,” Bioinformatics, vol. 22, no. 6, pp. 773–774, 2006.
- C. Perez-Iratxeta, P. Bork, and M. A. Andrade-Navarro, “Update of the G2D tool for prioritization of gene candidates to inherited diseases,” Nucleic Acids Research, vol. 35, supplement 2, pp. W212–W216, 2007.
- D. Seelow, J. M. Schwarz, and M. Schuelke, “Genedistiller—distilling candidate genes from linkage intervals,” PLoS ONE, vol. 3, no. 12, Article ID e3874, 2008.
- J. Chen, E. E. Bardes, B. J. Aronow, and A. G. Jegga, “ToppGene Suite for gene list enrichment analysis and candidate gene prioritization,” Nucleic Acids Research, vol. 37, no. 2, pp. W305–W311, 2009.
- B. Menten, F. Pattyn, K. De Preter et al., “arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays,” BMC Bioinformatics, vol. 6, article 124, 2005.
- E. Lander and L. Kruglyak, “Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results,” Nature Genetics, vol. 11, no. 3, pp. 241–247, 1995.
- V. Martínez-Glez, M. Valencia, J. A. Caparŕos-Martín et al., “Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta,” Human Mutation, vol. 33, no. 2, pp. 343–350, 2012.
- G. Baldassarre, C. M. Croce, and A. Vecchione, “Take your ‘M’ time,” Cell Cycle, vol. 6, no. 17, pp. 2087–2090, 2007.
- M. Kropp and S. I. Wilson, “The expression profile of the tumor suppressor gene Lzts1 suggests a role in neuronal development,” Developmental Dynamics, vol. 241, no. 5, pp. 984–994, 2012.
- D. Wendholt, C. Spilker, A. Schmitt et al., “ProSAP-interacting protein 1 (ProSAPiP1), a novel protein of the postsynaptic density that links the spine-associated Rap-Gap (SPAR) to the scaffolding protein ProSAP2/Shank3,” The Journal of Biological Chemistry, vol. 281, no. 19, pp. 13805–13816, 2006.
- M. C. Bonaglia, R. Giorda, R. Borgatti et al., “Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome,” American Journal of Human Genetics, vol. 69, no. 2, pp. 261–268, 2001.
- M. J. Schmeisser, A. M. Grabrucker, J. Bockmann, and T. M. Boeckers, “Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-β-catenin at excitatory synapses,” The Journal of Biological Chemistry, vol. 284, no. 42, pp. 29146–29157, 2009.
- Y. Cabeza-Arvelaiz, J. L. Sepulveda, R. M. Lebovitz, T. C. Thompson, and A. C. Chinault, “Functional identification of LZTS1 as a candidate prostate tumor suppressor gene on human chromosome 8p22,” Oncogene, vol. 20, no. 31, pp. 4169–4179, 2001.