Genodermatoses or inherited skin diseases requires an accurate diagnosis. Molecular characteristics of several such disorders also improve genetic counseling. Older techniques used genetic linkages and relied on candidate gene approaches. But the new NGS technology brings in more diagnostic precision. This study comprehensively reviews the usage of NGS between 2009 and 2019.

The focus was on new gene mutations of existing or novel skin diseases. The researchers also considered the pathogenic genes that led to Mendelian skin disorder phenotypes. The study reviewed NGS technologies that achieved such breakthroughs. They used the PubMed database and dermatology conference abstracts. Online Mendelian Inheritance in Man (OMIM) compendium was helpful in the collation and cross-referencing purposes.

A total of 166 genodermatoses discovered by NGS were the test data. They included 35 brand new disorders and 131 previously known ones. The autosomal dominant (43/85 de novo mutations), recessive, and X-linked diseases were 85, 78, and 3 in the count. The study also identified 63 cases of multiple pathogenic mutations. Of these, 13 had two co-existing genodermatoses, while 50 inherited disorders involved organ system phenotypes.

Clinicians use NGS data to split complex phenotypes into separate diseases. Diagnostic precision, prenatal testing accuracy, and targeted translational research will improve with NGS technologies.

Ref: https://onlinelibrary.wiley.com/doi/10.1111/bjd.19384