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  • 1
    Electronic Resource
    Electronic Resource
    HID and KID syndromes are associated with the same connexin 26 mutation (2002)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 146 (2002), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Keratitis–ichthyosis–deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas in addition to leading to profound sensory deafness and erythrokeratoderma. We recently demonstrated that KID can be caused by a specific missense mutation in connexin 26 (GJB2). Another syndrome, called hystrix-like ichthyosis–deafnesss (HID) syndrome, strongly resembles the KID syndrome. These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related. Objective To demonstrate by mutation analysis that HID and KID syndromes are genetically indistinguishable. Methods DNA was extracted from paraffin-embedded tissue samples of the first HID syndrome patient described in the literature. Since the KID syndrome mutation abolishes an AspI restriction site, we were able to screen the patient's DNA by polymerase chain reaction and subsequent restriction enzyme analysis. Results Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. This result was confirmed by direct DNA sequencing. Conclusions We show that KID and HID syndromes are identical at the molecular level and confirm the clinical impression that these syndromes are one and the same. That previous clinical reports made a distinction may be a consequence of sampling artefacts; alternatively, genetic background effects such as the presence of concurrent mutations in other skin-expressed genes may modify the phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2002.04893.x
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  • 2
    Electronic Resource
    Electronic Resource
    Kartierung und molekulare Analyse erblicher Hautkrankheiten Stand der Forschung (2000)
    Springer
    Der Hautarzt 51 (2000), S. 906-914 
    Details
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Klinische Genetik ; Genodermatosen ; Genkartierung ; Molekulare Analyse ; Keywords Clinical genetics ; Genodermatoses ; Gene mapping ; Molecular analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
    Notes: Zusammenfassung Die revolutionären Fortschritte der Molekulargenetik haben es möglich gemacht, dass in den letzten Jahren die Gene zahlreicher erblicher Hauterkrankungen lokalisiert und charakterisiert worden sind. Die Zahl neu entdeckter Loci für Genodermatosen erhöht sich derzeit nahezu jede Woche. In dieser Übersicht werden die wichtigsten molekulargenetischen Methoden dargestellt, die heute zur Kartierung und Analyse von genetisch bedingten Krankheiten angewendet werden. Für rund 200 Genodermatosen wird deren exakte Kartierung, nach Krankheitsgruppen geordnet, tabellarisch aufgeführt, und deren Gen oder Genprodukt wird, soweit bereits bekannt, angegeben. Dabei zeichnen sich neue, ätiologisch orientierte Klassifikationsmöglichkeiten ab, wobei wir einerseits klinisch ganz unterschiedliche Phänotypen auf einen einheitlichen Genlocus zurückführen können und anderseits klinisch einheitliche Genodermatosen mitunter verschiedenen Loci zuordnen müssen. Auch wird ersichtlich, bei welchen Phänotypen besonderer Forschungsbedarf besteht, da zwar die chromosomale Lage der Genloci, nicht aber die zugrunde liegenden Gene bekannt sind.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001050051238
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