Journal article
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
British journal of dermatology (1951), Vol.146(3), pp.495-499
2002
DOI: 10.1046/j.1365-2133.2002.04625.x
PMID: 11952552
Abstract
Netherton syndrome (NS) is a rare autosomal recessive disease with variable expression. It is defined by a triad of symptoms: congenital ichthyosiform erythroderma, trichorrhexis invaginata and atopy. Recently, genetic linkage has been established to the SPINK5 gene locus on chromosome 5q32 encoding the serine protease inhibitor LEKTI. In this study, we present a recurrent homozygous mononucleotide deletion (153delT) resulting in a severe case of NS exhibiting exfoliative erythroderma with lethal outcome at the age of 4 months and its application in prenatal testing in a subsequent pregnancy of the mother.
Details
- Title: Subtitle
- Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
- Creators
- F. B Müller - University of CologneI Hausser - Heidelberg UniversityD Berg - Department of Paediatrics, Children's Hospital of Cologne, GermanyC Casper - University of CologneR Maiwald - Institute for Medical Genetics and Molecular Medicine, Cologne, GermanyA Jung - Institute for Medical Genetics and Molecular Medicine, Cologne, GermanyH Jung - Institute for Medical Genetics and Molecular Medicine, Cologne, GermanyB. P Korge - University of Cologne
- Resource Type
- Journal article
- Publication Details
- British journal of dermatology (1951), Vol.146(3), pp.495-499
- Publisher
- Blackwell
- DOI
- 10.1046/j.1365-2133.2002.04625.x
- PMID
- 11952552
- ISSN
- 0007-0963
- eISSN
- 1365-2133
- Language
- English
- Date published
- 2002
- Academic Unit
- Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
- Record Identifier
- 9984360046502771
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