Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome
نویسندگان
چکیده
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity.
منابع مشابه
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism
Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity i...
متن کاملK-ras Mutation in Colorectal Cancer, A Report from Southern Iran
There are very few studies about K-ras mutations in colorectal cancer (CRC) from developing countries such as Iran. It is therefore essential to conduct studies to learn about the molecular signature of such tumors, allowing the determination of an appropriate management plan. In the present study, we aimed to determine the frequency and types of K-ras mutations among patients with CRC in Iran....
متن کاملBamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome (AKABamboo Hair Syndrome) is a non treatable, Autosomal Recessive Disorder of infancy and childhood, so has no sex predilection. Family history may reveal consanguinity. There is triad A] Ichthyosiform linearis circumflexa B] Hair Shaft Defect like trichorrhexis invaginata & C] Atopic Diathesis. Caused by mutation in Serine Protease Inhibitor Kazal type 5 gene (SPINK5), which...
متن کاملIchthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor LEKTI. NS is characterised by congenital ichthyosiform ...
متن کاملNetherton syndrome: report of two cases
Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...
متن کامل