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The first Mal de M eleda case in L ibya: identification of a SLURP1 mutation

2014; Wiley; Volume: 54; Issue: 12 Linguagem: Inglês

10.1111/ijd.12373

ISSN

1365-4632

Autores

Mbarka Bchetnia, Mariam Bozgia, Nadia Laroussi, Ahlem Sabrine Ben Brick, Chérine Charfeddine, Nizar Ben Halim, M. Mokni, Mohamed Samir Boubaker, Sonia Abdelhak,

Tópico(s)

Cellular transport and secretion

Resumo

International Journal of DermatologyVolume 54, Issue 12 p. 1426-1428 Case Report The first Mal de Meleda case in Libya: identification of a SLURP1 mutation Mbarka Bchetnia PhD, Mbarka Bchetnia PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorMariam Bozgia MD, Mariam Bozgia MD Département de Dermatologie, Hôpital de Ben Ghazi, Ben Ghazi, LibyaSearch for more papers by this authorNadia Laroussi PhD, Nadia Laroussi PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorAhlem Sabrine Ben Brick PhD, Ahlem Sabrine Ben Brick PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorCherine Charfeddine PhD, Cherine Charfeddine PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorNizar Ben Halim PhD, Nizar Ben Halim PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorMourad Mokni MD, Mourad Mokni MD Département de Dermatologie, Hôpital La Rabta, Tunis, Tunisia Unité de recherche “Troubles héréditaires de la kératinisation, UR24/04”, Hôpital La Rabta de Tunis, Tunis, TunisiaSearch for more papers by this authorMohamed Samir Boubaker MD, Mohamed Samir Boubaker MD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia Laboratoire d'anatomie pathologique humaine et expérimentale, Institut Pasteur de Tunis, Tunis, TunisiaSearch for more papers by this authorSonia Abdelhak PhD, Corresponding Author Sonia Abdelhak PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia Correspondence Sonia Abdelhak, phd Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05 Institut Pasteur de Tunis BP74, 13 Place Pasteur 1002 Tunis Belvédère, Tunisia E-mails: [email protected] or [email protected]Search for more papers by this author Mbarka Bchetnia PhD, Mbarka Bchetnia PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorMariam Bozgia MD, Mariam Bozgia MD Département de Dermatologie, Hôpital de Ben Ghazi, Ben Ghazi, LibyaSearch for more papers by this authorNadia Laroussi PhD, Nadia Laroussi PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorAhlem Sabrine Ben Brick PhD, Ahlem Sabrine Ben Brick PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorCherine Charfeddine PhD, Cherine Charfeddine PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorNizar Ben Halim PhD, Nizar Ben Halim PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, TunisiaSearch for more papers by this authorMourad Mokni MD, Mourad Mokni MD Département de Dermatologie, Hôpital La Rabta, Tunis, Tunisia Unité de recherche “Troubles héréditaires de la kératinisation, UR24/04”, Hôpital La Rabta de Tunis, Tunis, TunisiaSearch for more papers by this authorMohamed Samir Boubaker MD, Mohamed Samir Boubaker MD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia Laboratoire d'anatomie pathologique humaine et expérimentale, Institut Pasteur de Tunis, Tunis, TunisiaSearch for more papers by this authorSonia Abdelhak PhD, Corresponding Author Sonia Abdelhak PhD Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia Correspondence Sonia Abdelhak, phd Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05 Institut Pasteur de Tunis BP74, 13 Place Pasteur 1002 Tunis Belvédère, Tunisia E-mails: [email protected] or [email protected]Search for more papers by this author First published: 16 April 2014 https://doi.org/10.1111/ijd.12373Citations: 3Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Ward KM, Yerebakan O, Yilmaz E, et al. Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda. J Invest Dermatol 2003; 120: 96–98. 2Schnyder UW. [Meleda expedition 1968]. Hautarzt 1969; 20: 285–286. 3Eckl KM, Stevens HP, Lestringant GG, 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. Hum Genet 2003; 112: 50–56. 4Fischer J, Bouadjar B, Heilig R, et al. Mutations in the gene encoding SLURP-1 in Mel de Meleda. Hum Mol Genet 2001; 10: 875–880. 5Chimienti F, Hogg RC, Plantard L, et al. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet 2003; 12: 3017–3024. 6Chao SC, Lai FJ, Yang MH, et al. Mal de Meleda in a Taiwanese. J Formos Med Assoc 2005; 104: 276–278. 7Wajid M, Kurban M, Shimomura Y, et al. Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. J Dermatol Sci 2009; 56: 27–32. 8Oh YJ, Lee HE, Ko JY, et al. A sporadic case of Mal de Meleda caused by gene mutation in SLURP-1 in Korea. Ann Dermatol 2011; 23: 396–399. 9Tjiu JW, Lin PJ, Wu WH, et al. SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. Br J Dermatol 2011; 164: 47–53. 10Charfeddine C, Mokni M, Ben Mousli R, et al. A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia. Br J Dermatol 2003; 149: 1108–1115. 11Ambrish R, Alper K, Yang Z. I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc 2010; 5: 725–738. 12Marrakchi S, Audebert S, Bouadjar B, et al. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptorrelated protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol 2003; 120: 351–355. 13Tourlaki A, Bentivogli M, Boneschi V, et al. Genetically proven Mal de Meleda complicated by Bowen's disease of the sole. Eur J Dermatol 2011; 21: 292–294. 14Bchetnia M, Merdassi A, Charfeddine C, et al. Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports. J Med Case Rep 2010; 4: 108. 15Grousset R. L'Empire des steppes. Paris: Editions Payot, 2001. 656 pp. 16Turchin P, Jonathan M, Hall TD. East-west orientation of historical empires and modern states. J Wld Syst Res 2006; XII: 218–239. Citing Literature Volume54, Issue12December 2015Pages 1426-1428 ReferencesRelatedInformation

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