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

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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