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BioMed Research International
Volume 2013 (2013), Article ID 206803, 7 pages
Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region
1Université de Tunis El Manar, Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), BP74, 13 Place Pasteur, Belvédère, 1002 Tunis, Tunisia
2Hôpital Farhat Hached, Département de Dermatologie, 4000 Sousse, Tunisia
3Hôpital La Rabta, Département de Dermatologie, 1007 Tunis, Tunisia
4Hôpital Habib Thameur, Département de Dermatologie, 1008 Tunis, Tunisia
Received 30 April 2013; Accepted 5 August 2013
Academic Editor: Helmut Schöfer
Copyright © 2013 Mbarka Bchetnia 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.
- L. Romdhane and S. Abdelhak, Genetic Disorders in North African Populations, Genomics and Health in the Developing World, Oxford University Press, 2012.
- B. Bouadjar, S. Benmazouzia, J.-F. Prud'homme, S. Cure, and J. Fischer, “Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda,” Archives of Dermatology, vol. 136, no. 10, pp. 1247–1252, 2000.
- S. Marrakchi, S. Audebert, B. Bouadjar et al., “Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda,” Journal of Investigative Dermatology, vol. 120, no. 3, pp. 351–355, 2003.
- C. Charfeddine, M. Mokni, R. Ben Mousli et al., “A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia,” British Journal of Dermatology, vol. 149, no. 6, pp. 1108–1115, 2003.
- E. Frenk, D. Guggisberg, B. Mevorah, and D. Hohl, “Meleda disease: report of two cases investigated by electron microscopy,” Dermatology, vol. 193, no. 4, pp. 358–361, 1996.
- J. Arredondo, A. I. Chernyavsky, R. J. Webber, and S. A. Grando, “Biological effects of SLURP-1 on human keratinocytes,” Journal of Investigative Dermatology, vol. 125, no. 6, pp. 1236–1241, 2005.
- A. Roy, A. Kucukural, and Y. Zhang, “I-TASSER: a unified platform for automated protein structure and function prediction,” Nature Protocols, vol. 5, no. 4, pp. 725–738, 2010.
- D. Seeliger and B. L. de Groot, “Ligand docking and binding site analysis with PyMOL and Autodock/Vina,” Journal of Computer-Aided Molecular Design, vol. 24, no. 5, pp. 417–422, 2010.
- J. Fischer, B. Bouadjar, R. Heilig et al., “Mutations in the gene encoding SLURP-1 in Mal de Meleda,” Human Molecular Genetics, vol. 10, no. 8, pp. 875–880, 2001.
- K. M. Ward, Ö. Yerebakan, E. Yilmaz, and J. T. Çelebi, “Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda,” Journal of Investigative Dermatology, vol. 120, no. 1, pp. 96–98, 2003.
- A. Tourlaki, M. Bentivogli, V. Boneschi, and L. Brambilla, “Genetically proven Mal de Meleda complicated by Bowen's disease of the sole,” European Journal of Dermatology, vol. 21, no. 2, pp. 292–294, 2011.
- M. Bchetnia, A. Merdassi, C. Charfeddine et al., “Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports,” Journal of Medical Case Reports, vol. 4, article 108, 2010.
- F. Chimienti, R. C. Hogg, L. Plantard et al., “Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda,” Human Molecular Genetics, vol. 12, no. 22, pp. 3017–3024, 2003.
- H. Kurzen and K. U. Schallreuter, “Novel aspects in cutaneous biology of acetylcholine synthesis and acetylcholine receptors,” Experimental Dermatology, vol. 13, supplement 4, pp. 27–30, 2004.
- K. M. Eckl, H. P. Stevens, G. G. Lestringant et al., “MAL de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates,” Human Genetics, vol. 112, no. 1, pp. 50–56, 2003.
- M. Wajid, M. Kurban, Y. Shimomura, and A. M. Christiano, “Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families,” Journal of Dermatological Science, vol. 56, no. 1, pp. 27–32, 2009.
- R. G. L. Nellen, M. van Geel, P. M. Steijlen, and M. A. M. van Steensel, “Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda,” British Journal of Dermatology, vol. 160, no. 4, pp. 878–880, 2009.
- M. H. Muslumanoglu, N. Saracoglu, O. Cilingir et al., “A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda,” British Journal of Dermatology, vol. 155, no. 2, pp. 467–469, 2006.
- R. Gruber, H. C. Hennies, N. Romani, and M. Schmuth, “A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype,” Archives of Dermatology, vol. 147, no. 6, pp. 748–750, 2011.
- Y. J. Oh, H. E. Lee, J. Y. Ko, Y. S. Ro, and H. J. Yu, “A sporadic case of Mal de Meleda caused by gene mutation in SLURP-1 in Korea,” Annals of Dermatology, vol. 23, no. 3, pp. 396–399, 2011.
- J.-W. Tjiu, P.-J. Lin, W.-H. Wu et al., “SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda,” British Journal of Dermatology, vol. 164, no. 1, pp. 47–53, 2011.
- Ö. Yerebakan, G. Hu, E. Yilmaz, and J. T. Çelebi, “A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda,” Clinical and Experimental Dermatology, vol. 28, no. 5, pp. 542–544, 2003.
- B. Favre, L. Plantard, L. Aeschbach et al., “SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda,” Journal of Investigative Dermatology, vol. 127, no. 2, pp. 301–308, 2007.
- N. Ben Halim, N. Ben Alaya Bouafif, L. Romdhane, et al., “Consanguinity, endogamy, and genetic disorders in Tunisia,” Journal of Community Genetics, vol. 4, pp. 273–284, 2013.
- N. Mozzillo, C. A. Nunziata, C. Caracò, F. Fazioli, and G. Botti, “Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal De Meleda),” Journal of Surgical Oncology, vol. 84, no. 4, pp. 229–233, 2003.
- L. Sartore, M. Bordignon, F. Bassetto, A. Voltan, V. Tomat, and M. Alaibac, “Melanoma in skin affected with keratoderma palmoplantaris hereditaria (Mal de Meleda): treatment with excision and grafting,” Journal of the American Academy of Dermatology, vol. 61, no. 1, pp. 161–163, 2009.
- A. Baroni, V. Piccolo, R. di Maio, F. Romano, F. di Girolamo, and R. A. Satriano, “Mal de meleda with hyperpigmented spots,” European Journal of Dermatology, vol. 21, no. 3, pp. 459–460, 2011.