Particular mal de meleda phenotypes in tunisia and mutations founder effect in the mediterranean region

BioMed Research International

Volumn 2013, Issue , 2013, Pages

  Bchetnia, Mbarka ^a   Laroussi, Nadia ^a   Youssef, Monia ^b   Charfeddine, Cherine ^a   Ben Brick, Ahlem Sabrine ^a   Boubaker, Mohamed Samir ^a   Mokni, Mourad ^c   Abdelhak, Sonia ^a   Zili, Jameleddine ^b   Benmously, Rym ^d  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b FARHAT HACHED HOSPITAL   (Tunisia)

^c LA RABTA HOSPITAL   (Tunisia)

^d HABIB THAMEUR HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; DYSKERATOSIS; ELBOW; ERYTHEMA; FAMILY HISTORY; FEMALE; FOUNDER EFFECT; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERHIDROSIS; HYPERKERATOSIS; KERATODERMA; KNEE; MAL DE MELEDA; MALE; MELANOMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PALMOPLANTAR KERATODERMA; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RARE DISEASE; SKIN MANIFESTATION; SLURP 1 GENE; SOUTHERN EUROPE; TUNISIA; VISUAL IMPAIRMENT; FRAMESHIFT MUTATION; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ARS PROTEIN, HUMAN; LY ANTIGEN; UROKINASE;

ANTIGENS, LY; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; FRAMESHIFT MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KERATODERMA, PALMOPLANTAR; MEDITERRANEAN REGION; PEDIGREE; PHENOTYPE; TUNISIA; UROKINASE-TYPE PLASMINOGEN ACTIVATOR;

EID: 84884832582     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2013/206803     Document Type: Article

References (27)

1. Romdhane L., Abdelhak S., Genetic Disorders in North African Populations 2012 Oxford University Press Genomics and Health in the Developing World
2. Bouadjar B., Benmazouzia S., Prud'homme J.-F., Cure S., Fischer J., Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda. Archives of Dermatology 2000 136 10 1247 1252 2-s2.0-0033769957
3. Marrakchi S., Audebert S., Bouadjar B., Has C., Lefèvre C., Munro C., Cure S., Jobard F., Morlot S., Hohl D., Prud'homme J.-F., Zahaf A., Turki H., Fischer J., 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 2003 120 3 351 355 2-s2.0-0345701262 10.1046/j.1523-1747.2003.12062.x (Pubitemid 36298418)
4. Charfeddine C., Mokni M., Ben Mousli R., Elkares R., Bouchlaka C., Boubaker S., Ghedamsi S., Baccouche D., Ben Osman A., Dellagi K., Abdelhak S., A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia. British Journal of Dermatology 2003 149 6 1108 1115 2-s2.0-9144265810 10.1111/j.1365-2133.2003.05606.x (Pubitemid 38058086)
5. Frenk E., Guggisberg D., Mevorah B., Hohl D., Meleda disease: report of two cases investigated by electron microscopy. Dermatology 1996 193 4 358 361 2-s2.0-0030459791 (Pubitemid 27007590)
6. Arredondo J., Chernyavsky A. I., Webber R. J., Grando S. A., Biological effects of SLURP-1 on human keratinocytes. Journal of Investigative Dermatology 2005 125 6 1236 1241 2-s2.0-33644831978 10.1111/j.0022-202X.2005.23973.x
7. Roy A., Kucukural A., Zhang Y., I-TASSER: a unified platform for automated protein structure and function prediction. Nature Protocols 2010 5 4 725 738 2-s2.0-77954065271
8. Seeliger D., de Groot B. L., Ligand docking and binding site analysis with PyMOL and Autodock/Vina. Journal of Computer-Aided Molecular Design 2010 24 5 417 422 2-s2.0-77953325845 10.1007/s10822-010-9352-6
9. Fischer J., Bouadjar B., Heilig R., Huber M., Lefèvre C., Jobard F., Macari F., Bakija-Konsuo A., Ait-Belkacem F., Weissenbach J., Lathrop M., Hohl D., Prud'homme J.-F., Mutations in the gene encoding SLURP-1 in Mal de Meleda. Human Molecular Genetics 2001 10 8 875 880 2-s2.0-0035311667 (Pubitemid 32331598)
10. Ward K. M., Yerebakan Ö., Yilmaz E., Çelebi J. T., Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda. Journal of Investigative Dermatology 2003 120 1 96 98 2-s2.0-0037241157 10.1046/j.1523-1747.2003.12020.x (Pubitemid 36120976)
11. Tourlaki A., Bentivogli M., Boneschi V., Brambilla L., Genetically proven Mal de Meleda complicated by Bowen's disease of the sole. European Journal of Dermatology 2011 21 2 292 294 2-s2.0-79960754085 10.1684/ejd.2011.1278
12. Bchetnia M., Merdassi A., Charfeddine C., Mgaieth F., Kassar S., Ouechtati F., Chouchene I., Boussen H., Mokni M., Osman A. D.-B., Boubaker M. S., Abdelhak S., Elmatri L., Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports. Journal of Medical Case Reports 2010 4, article 108 2-s2.0-77950937553 10.1186/1752-1947-4- 108
13. Chimienti F., Hogg R. C., Plantard L., Lehmann C., Brakch N., Fischer J., Huber M., Bertrand D., Hohl D., Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Human Molecular Genetics 2003 12 22 3017 3024 2-s2.0-0344443178 10.1093/hmg/ddg320 (Pubitemid 37442029)
14. Kurzen H., Schallreuter K. U., Novel aspects in cutaneous biology of acetylcholine synthesis and acetylcholine receptors. Experimental Dermatology 2004 13 supplement 4 27 30 2-s2.0-10644240856 (Pubitemid 39654438)
15. Eckl K. M., Stevens H. P., Lestringant G. G., Westenberger-Treumann M., Traupe H., Hinz B., Frossard P. M., Stadler R., Leigh I. M., Nürnberg P., Reis A., Hennies H. C., 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 2003 112 1 50 56 2-s2.0-0037209241 10.1007/s00439-002- 0838-8 (Pubitemid 36869115)
16. Wajid M., Kurban M., Shimomura Y., Christiano A. M., Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. Journal of Dermatological Science 2009 56 1 27 32 2-s2.0-69049090662 10.1016/j.jdermsci. 2009.06.012
17. Nellen R. G. L., van Geel M., Steijlen P. M., van Steensel M. A. M., Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda. British Journal of Dermatology 2009 160 4 878 880 2-s2.0-62649146874 10.1111/j.1365-2133.2008.08980.x
18. Muslumanoglu M. H., Saracoglu N., Cilingir O., Basmaci T., Urer S., Sabuncu I., Demir S., Bademci G., Artan S., A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda. British Journal of Dermatology 2006 155 2 467 469 2-s2.0-33745928493 10.1111/j.1365-2133.2006.07288.x (Pubitemid 44050587)
19. Gruber R., Hennies H. C., Romani N., Schmuth M., A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype. Archives of Dermatology 2011 147 6 748 750 2-s2.0-79959386495 10.1001/archdermatol.2011.138
20. Oh Y. J., Lee H. E., Ko J. Y., Ro Y. S., Yu H. J., A sporadic case of Mal de Meleda caused by gene mutation in SLURP-1 in Korea. Annals of Dermatology 2011 23 3 396 399 2-s2.0-80052094263 10.5021/ad.2011.23.3.396
21. Tjiu J.-W., Lin P.-J., Wu W.-H., Cheng Y.-P., Chiu H.-C., Thong H.-Y., Chiang B.-L., Yang W.-S., Jee S.-H., SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. British Journal of Dermatology 2011 164 1 47 53 2-s2.0-78650504159 10.1111/j.1365-2133.2010.10059.x
22. Yerebakan Ö., Hu G., Yilmaz E., Çelebi J. T., A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda. Clinical and Experimental Dermatology 2003 28 5 542 544 2-s2.0-0041909836 10.1046/j.1365-2230.2003.01342.x (Pubitemid 37100562)
23. Favre B., Plantard L., Aeschbach L., Brakch N., Christen-Zaech S., De Viragh P. A., Sergeant A., Huber M., Hohl D., SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. Journal of Investigative Dermatology 2007 127 2 301 308 2-s2.0-33846206457 10.1038/sj.jid.5700551 (Pubitemid 46106906)
24. Ben Halim N., Ben Alaya Bouafif N., Romdhane L., Consanguinity, endogamy, and genetic disorders in Tunisia. Journal of Community Genetics 2013 4 273 284
25. Mozzillo N., Nunziata C. A., Caracò C., Fazioli F., Botti G., Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal De Meleda). Journal of Surgical Oncology 2003 84 4 229 233 2-s2.0-0345306599 10.1002/jso.10317 (Pubitemid 37484788)
26. Sartore L., Bordignon M., Bassetto F., Voltan A., Tomat V., Alaibac M., Melanoma in skin affected with keratoderma palmoplantaris hereditaria (Mal de Meleda): treatment with excision and grafting. Journal of the American Academy of Dermatology 2009 61 1 161 163 2-s2.0-66949172862 10.1016/j.jaad.2009.01.007
27. Baroni A., Piccolo V., di Maio R., Romano F., di Girolamo F., Satriano R. A., Mal de meleda with hyperpigmented spots. European Journal of Dermatology 2011 21 3 459 460 2-s2.0-79960824777 10.1684/ejd.2010.1217