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

Journal of the American Academy of Dermatology
Jouni UittoHassan Vahidnezhad

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 g...Continue Reading

References

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Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
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Oct 30, 2018·Nucleic Acids Research·Philipp RentzschMartin Kircher
Nov 6, 2018·The Journal of Investigative Dermatology·Hassan VahidnezhadJouni Uitto
Aug 28, 2019·Journal of Human Genetics·Hui-Qi QuHakon Hakonarson
Apr 25, 2020·Molecular Diagnosis & Therapy·Cristina HasJouni Uitto
May 25, 2020·The Journal of Investigative Dermatology·Amir Hossein SaeidianJouni Uitto
May 21, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·David T MillerUNKNOWN ACMG Secondary Findings Working Group

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