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Praktische Aspekte der molekularen Diagnostik bei Genodermatosen

Practical aspects of molecular diagnostics in genodermatoses

Zusammenfassung

Genodermatosen sind seltene genetische Erkrankungen mit einem breiten Spektrum an kutanen und extrakutanen Manifestationen und molekulargenetischem Hintergrund. Bei Verdacht auf eine Genodermatose bleiben die klinische Bewertung durch erfahrene Spezialisten und eine sinnvolle Staffelung der Untersuchungen auch in der Ära der „Next Generation Sequencing“ (NGS) unabdingbar. Der Diagnostikpfad zur molekularen Abklärung der Diagnose ist von der klinischen und genetischen Heterogenität der Krankheitsgruppe abhängig. Die Anwendung der NGS-basierten Tests führt zu einer wesentlich kürzeren Zeit der Diagnose der Genodermatosen und der Identifizierung neuer Erkrankungen und krankheitsassoziierter Gene. Die neu gewonnenen Erkenntnisse zu Genotyp-Phänotyp-Korrelationen sollten die Grundlage für eine zeitgemäße molekulargenetische Revision der Klassifikation der Genodermatosen bilden.

Abstract

Genodermatoses are rare genetic disorders with a broad spectrum of cutaneous and extracutaneous manifestations that have a genetic background. A thorough clinical examination, laboratory workup and morphological analyses of the skin remain crucial for the diagnosis in the era of next generation sequencing (NGS). The diagnostic algorithm depends on the clinical and molecular heterogeneity and should be adapted for each group of genodermatoses. In cases with uncharacteristic phenotypes which cannot be classified, NGS-based testing accelerates the time to diagnosis and leads to the identification of new disorders and new disease-associated genes. The new knowledge on genotype–phenotype correlations should enable revision of the classification of genodermatoses on a molecular basis.

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Correspondence to C. Has.

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C. Has und Y. He geben an, dass kein Interessenkonflikt besteht.

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Has, C., He, Y. Praktische Aspekte der molekularen Diagnostik bei Genodermatosen. Hautarzt 67, 53–58 (2016). https://doi.org/10.1007/s00105-015-3721-y

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Schlüsselwörter

  • Mutation
  • Ichthyose
  • Epidermolysis bullosa
  • Pränatale Diagnostik
  • Hochdurchsatzsequenzierung

Keywords

  • Mutation
  • Ichthyosis
  • Epidermolysis bullosa
  • Prenatal diagnosis
  • High-throughput nucleotide sequencing