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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INTRODUCTION
Netherton Syndrome (NS) (OMIM 256500) is a
rare genetic skin disease with a prevalence of one in
200,000 live births, resulting from defects in the SPINK5
gene, encoding the protease inhibitor lympho-epithelial
Kazal type inhibitor 1 (LEKTI1). As a result of LEKTI
deficiency, the skin becomes red and scaly. The epidermal
barrier function is also affected; dryness of the skin
results from increased permeability of the skin, and its
decreased capacity to bind water [2]. Recurrent infections,
IgG abnormalities, enteropathy, elevated IgE levels,
and hypo-albuminemia are other common features
of the disease [3]. Chronic skin inflammation results
in scaling and exfoliation, predisposing these patients
to life-threatening infections, sepsis, hypernatremic dehydration
or pneumonia. Disease manifestations vary
considerably among NS individuals [4]. Many children
suffer from a failure to thrive in the first year of life and
most of them remain underweight and have short stature.
Other reported features include intellectual disability
(15.0% of cases), seizures (<10.0%), recurrent infections
or IgG abnormalities (15.0%) and aminoaciduria
(25.0%) [5]. The reasons of phenotypic diversity in NS
are complex and not fully understood. Herein, we present
a case of NS in Polish male infant with two heterozygous
SPINK5 mutations: c.1431-12G>A and the novel
c.1816_1820+21delinsCT.
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