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
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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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