Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians - 28/06/21
Cet article a été publié dans un numéro de la revue, cliquez ici pour y accéder
Abstract |
Over 1000 heritable disorders have cutaneous manifestations, some of which are syndromicin association with extracutaneous manifestations, whereas others are limited to the skin. The genetic basis of many of these conditions has been deciphered, and mutation analyses using next-generation sequencing approaches, including whole-exome sequencing, whole-genome sequencing, and whole-transcriptome analysis, are now increasingly becoming part of the diagnostic process. Besides confirming the diagnosis, information on the specific mutations can be used for subclassification with prognostication and identification of the carriers, leading to accurate genetic counseling. It also forms a basis for prenatal testing and preimplantation genetic diagnosis. Furthermore, the ongoing therapeutics developments for heritable skin diseases are often allele-specific, necessitating the knowledge of the specific genes and mutations. Although practicing clinicians increasingly employ molecular diagnostics for heritable skin diseases, they often lack the sufficient knowledge required to interpret the implications of the mutations with precision. The purpose of this primer is to provide an overview of mutation-detection strategies and how to interpret genetic information for improved diagnostics and the management of such patients.
Le texte complet de cet article est disponible en PDF.Key words : heritable skin diseases, interpretation of sequence variants, Mendelian disorders, mutation-detection strategies
Abbreviations used : ACMG/AMP, EB, NGS, PTC, RNA-seq, WES, WGS
Plan
Funding sources: The original research by the authors of this article has been supported by the National Institutes of Health (R01AR072695) as well as PXE International and DEBRA International. |
|
IRB approval status: Not applicable. |
|
Reprints not available from the authors. |
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?