Genetic Research on Monogenic Skin Disorders

Dear Colleagues,

The genome programs of the last 15–20 years have fundamentally changed our knowledge of monogenic skin diseases (genodermatosis). Over the past 15 years, our clinical genetic and genomic studies, genotype–phenotype correlations, haplotype analyses and functional studies carried out in these syndromes have greatly contributed to the fast development of this field. Due to these great achievements, a high number of monogenic skin diseases have been newly described and hundreds of disease-causing genes have been identified. These significant results have led to the identification of thousands of pathogenic variants in the investigated diseases. The clarification of the genetic causes of monogenic skin diseases and the elucidation of the mechanisms of these diseases also provided a solid basis for the development of many new therapeutic modalities.

Although the genome programs of the last 15–20 years have expanded our knowledge about monogenic skin diseases, there are still some unelucidated issues: No 1.: Although missing heritability was first suggested in complex diseases, it is a significant phenomenon in rare monogenic diseases as well. The rate of missing heritability varies tremendously within the monogenic diseases, but in general, missing heritability is smaller among monogenic diseases than among complex ones. No 2.: Genodermatoses develop as a consequence of pathogenic variants in the disease-causing genes, but our previous results demonstrated that even carrying the same disease-causing variants can lead to the development of significantly different phenotypes or even to different diseases. Based on the literature data, there are still a relatively high number of rare skin diseases where the inheritance cannot be explained by the investigation of already identified disease-causing genes; therefore, missing heritability is still an issue in these cases. Moreover, patients affected by rare monogenic skin diseases develop diverse phenotypes, which cannot be explained by the identified pathogenic variants of the disease-causing genes.

This Special Issue aims to publish cutting-edge studies, which elucidate missing heritability and high phenotypic diversity in genodermatoses. These investigations may identify further yet unknown disease-causing genes, phenotype-modifier genetic variants, and/or epigenetic abnormalities associated with missing heritability and high phenotypic diversity in genodermatoses. The results of these investigations not only provide novel research data, but also may be extremely useful for the affected patients and thus may further accelerate the development of clinical genetics and genomics.

We are expecting papers that elucidate missing heritability and high phenotypic diversity in genodermatoses. Thus, papers focusing on novel disease-causing genes, novel rare pathogenic variants, novel phenotype-modifier rare or common variants, novel epigenetic alterations, and novel aspects of the disease mechanisms are greatly welcomed. We are not publishing papers on already-published genetic variants or recurrent variants.

Dr. Nikoletta Nagy
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• genodermatosis
• monogenic skin diseases
• phenotypic diversity
• missing heritability