Special Issue "Genetics and Epigenetics in Endocrine Disorders"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Epigenomics".

Deadline for manuscript submissions: 31 March 2022.

Special Issue Editors

Dr. Katarina Trebušak Podkrajšek
E-Mail Website
Guest Editor
Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
Interests: genomics; genetics; epigenetics; genetic diagnostics; hearing loss; fabry disease; hypercholesterolemia; endocrine disorders
Dr. Primož Kotnik
E-Mail Website
Guest Editor
Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana University Medical Centre, Ljubljana, Slovenia
Interests: molecular genetics; endocrine disorders; next generation sequencing

Special Issue Information

Dear Colleagues,

The development of high-throughput sequencing methodologies has significantly improved our knowledge of the genetic and epigenetic background of complex and monogenetic endocrine disorders. This knowledge enables the identification of the etiological factors involved in the pathogenic mechanism in endocrine disorders, and is becoming essential to clinicians for the diagnostic and personalized management of individual disorders. Nevertheless, the understanding of the molecular pathology behind endocrine disorders is still incomplete and needs further elucidation.

This Special Issue welcomes the submission of unpublished original manuscripts (research articles, reviews, and communications) focusing on the molecular mechanisms leading to the development of complex and monogenetic endocrine disorders. We welcome manuscripts with a strong genetic component describing recent advances on all aspects related, but not limited, to the following topics:

  • Rare variant analyses and epigenetic studies in complex and monogenic endocrine disorders.
  • Functional studies for endocrine-disorder-related genes or variants.
  • Gene expression analyses.
  • Noncoding RNA analysis and function.
  • Genotype–phenotype correlations.

Dr. Katarina Trebušak Podkrajšek
Dr. Primož Kotnik
Guest Editors

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 papers will be 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 2000 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.


  • monogenetic endocrine disorders
  • complex endocrine disorders
  • genetics
  • epigenetics
  • genotype–phenotype correlations
  • next-generation sequencing
  • gene expression
  • non-coding RNA
  • rare variants

Published Papers (1 paper)

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Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature
Genes 2021, 12(10), 1546; https://doi.org/10.3390/genes12101546 - 29 Sep 2021
Viewed by 371
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic [...] Read more.
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2–15% of ISS. We aimed to analyse the regulatory and coding region of SHOX in Slovenian children and young adults with ISS and to investigate the pathogenicity of detected variants. Our cohort included 75 children and young adults with ISS. Multiplex ligation-dependent probe amplification (MLPA) was performed in all participants for the detection of larger copy number variations (CNVs). Sanger sequencing was undertaken for the detection of point variants, small deletions, and insertions. A total of one deletion and two duplications were discovered using the MLPA technique. Only one of these four variants was identified as disease-causing and occurred in one individual, which represents 1.3% of the cohort. With Sanger sequencing, two variants were discovered, but none of them appeared to have a pathogenic effect on height. According to the results, in the Slovenian population of children and young adults with ISS, SHOX deficiency is less frequent than expected considering existing data from other populations. Full article
(This article belongs to the Special Issue Genetics and Epigenetics in Endocrine Disorders)
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