Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians.

Autor: Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Jefferson Institute of Molecular Medicine, Thomas Jefferson University Philadelphia, Philadelphia, Pennsylvania; Jefferson Center for Heritable Connective Tissue and Skin Diseases, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania. Electronic address: Jouni.Uitto@jefferson.edu., Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Jefferson Institute of Molecular Medicine, Thomas Jefferson University Philadelphia, Philadelphia, Pennsylvania; Genetics, Genomics and Cancer Biology Graduate Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania., Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Jefferson Institute of Molecular Medicine, Thomas Jefferson University Philadelphia, Philadelphia, Pennsylvania; Jefferson Center for Heritable Connective Tissue and Skin Diseases, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania., Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Jefferson Institute of Molecular Medicine, Thomas Jefferson University Philadelphia, Philadelphia, Pennsylvania; Jefferson Center for Heritable Connective Tissue and Skin Diseases, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania.
Jazyk: angličtina
Zdroj: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2023 Sep; Vol. 89 (3), pp. 569-576. Date of Electronic Publication: 2021 Jun 09.
DOI: 10.1016/j.jaad.2021.06.013
Abstrakt: 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.
Competing Interests: Conflicts of interest None disclosed.
(Copyright © 2021 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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