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Molecular Diagnosis & Therapy
Erschienen in: Molecular Diagnosis & Therapy 2/2017

01.04.2017 | Review Article

Netherton Syndrome: A Genotype-Phenotype Review

verfasst von: Constantina A. Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris

Erschienen in: Molecular Diagnosis & Therapy | Ausgabe 2/2017

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Abstract

Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families. Genotypes with mutations located more upstream in LEKTI correlate with more severe phenotypes compared with similar mutations located towards the 3′ region. Furthermore, splicing mutations and post-transcriptional mechanism of nonsense-mediated mRNA decay affect LEKTI expression in variable ways. Genotype–phenotype correlations form the basis of prenatal diagnosis in families with a history of Netherton syndrome and when consanguinity is implied.
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Metadaten
Titel
Netherton Syndrome: A Genotype-Phenotype Review
verfasst von
Constantina A. Sarri
Angeliki Roussaki-Schulze
Yiannis Vasilopoulos
Efterpi Zafiriou
Aikaterini Patsatsi
Costas Stamatis
Polyxeni Gidarokosta
Dimitrios Sotiriadis
Theologia Sarafidou
Zissis Mamuris
Publikationsdatum
01.04.2017
Verlag
Springer International Publishing
Erschienen in
Molecular Diagnosis & Therapy / Ausgabe 2/2017
Print ISSN: 1177-1062
Elektronische ISSN: 1179-2000
DOI
https://doi.org/10.1007/s40291-016-0243-y

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