IS c.1431-12G>A A COMMON EUROPEAN MUTATION OF SPINK5? REPORT OF A PATIENT WITH NETHERTON SYNDROME
Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, Wertheim-Tysarowska K
*Corresponding Author: Robert Śmigiel, M.D., Ph.D., Department of Pediatrics, Wroclaw Medical University, Bartla 5, PL 51-618 Wroclaw, Poland. Tel: +48-71-784-13-26. Fax: +48-71-784-00-63. E-mail: robert.smigiel@ umed.wroc.pl
page: 81

REFERENCES

1. Wang S, Olt S, Schoefmann N, Stuetz A, Winiski A, Wolff-Winiski B, et al. SPINK 5 knockdown in organotypic human skin culture as a model system for Netherton syndrome effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7. Exp Dermatol. 2014; 23(7): 524-526. 2. Hovnanian A. Netherton syndrome: Skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013; 351(2): 289-300. 3. Roelandt T, Thys B, Heughebaert C, De Vroede A, De Paepe K, Roseeuw D, et al. LEKTI-1 in sickness and in health. Int J Cosmet Sci. 2009; 31(4): 247-254. 4. Furio L, de Veer S, Jaillet M, Briot A, Robin A, Deraison C, et al. Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. J Exp Med. 2014; 211(3): 499-513. 5. Winter RM, Baraitser M., Eds. Netherton Ichthyosis; brittle hair. Multiple Congenital Anomalies. A Diagnostic Compendium. New York, NY, USA: Springer, 1991: 435. 6. Chao SC, Richard G, Lee JY. Netherton syndrome: Report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5. Br J Dermatol. 2005; 152(1): 159-165. 7. Meltem Akkurt Z, Tuncel T, Ayhan E, Uçmak D, Uluca Ü, Uçak H, et al. Rapid and easy diagnosis of Netherton syndrome with dermoscopy. J Cutan Med Surg. 2014; 18(4): 280-282. 8. http://www.biobase-international.com/product/hgmd (accessed on 18 August 2015). 9. Raghunath M, Tontsidou L, Oji V, Aufenvenne K, Schürmeyer-Horst F, Jayakumar A, et al. SPINK5 and Netherton syndrome: Novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol. 2004; 123(3): 474-483. 10. Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van de Wier G, et al. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: Unmasking a frequent founder synonymous mutation and unconventional intronic mutations. J Invest Dermatol. 2012; 132(3): 575-582. 11. Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D, et al. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet. 2012; 57(5): 311-315. 12. Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, et al. Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. 2002; 118(2): 352-361. 13. Komatsu N, Saijoh K, Jayakumar A, Clayman GL, Tohyama M, Suga Y, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol. 2008; 128(5): 1148-1159. 14. Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001; 117(2): 179-187. 15. Piirila H, Valiaho J, Vihinen M. Immunodeficiency mutation databases (IDbases). Hum Mutat. 2006; 27(12): 1200-1208.



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