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Distribution and Regularity of Genetic Epidemiology Interpreted from Molecular Perspective
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Distribution and Regularity of Genetic Epidemiology Interpreted from Molecular Perspective

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 2634

Special Issue Editor

Prof. Dr. Rena A. Zinchenko

E-Mail Website
Guest Editor
Research Center for Medical Genetics, Moscow 115522, Russia
Interests: genetic epidemiology

Special Issue Information

Dear Colleagues,

Genetic epidemiology is a field that combines the principles of genetics and epidemiology to understand the distribution and determinants of hereditary diseases in different populations. It seeks to identify genetic factors that influence disease susceptibility, progression, and response to treatment. This Issue delves into various studies that explore the epidemiology and molecular epidemiology of different hereditary diseases. These studies provide insights into the burden of hereditary diseases in children, frequent forms of hereditary diseases, and the heterogeneity of hereditary diseases in ethnic groups. The Issue also highlights the importance of molecular genetics in understanding the molecular nature of hereditary diseases, such as hearing disorders, oculocutaneous albinism, hereditary ophthalmic, and neurological pathology.

Prof. Dr. Rena A. Zinchenko
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.

Keywords

  • genetic epidemiology
  • monogenic hereditary diseases
  • molecular epidemiology
  • heterogeneity (allelic, locus) of hereditary diseases in ethnic groups
  • spinal muscular atrophy
  • hereditary ophthalmopathology
  • hereditary hearing disorders

Published Papers (2 papers)

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11 pages, 928 KiB  
Case Report
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient
by Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev and Rena A. Zinchenko
Int. J. Mol. Sci. 2023, 24(21), 15527; https://doi.org/10.3390/ijms242115527 - 24 Oct 2023
Viewed by 1342
Abstract
This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient’s phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations [...] Read more.
This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient’s phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the PAX6 gene. The patient exhibited distinctive features associated with both congenital aniridia and Down syndrome, suggesting a potential exacerbation of their effects. Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the PAX6 gene (c.282C>A, p.(Cys94*)) corresponding to the paired domain of the protein. The observation of these two hereditary anomalies offers valuable insights into the molecular pathogenetic mechanisms underlying each condition. Additionally, it provides a basis for a more nuanced prognosis of the complex disease course in this patient. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning. Full article
(This article belongs to the Special Issue Distribution and Regularity of Genetic Epidemiology Interpreted from Molecular Perspective)
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6 pages, 430 KiB  
Case Report
Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
by Olga Shchagina, Vera Kurilova, Elena Zinina, Vyacheslav Porubov, Svetlana Efishova and Aleksander Polyakov
Int. J. Mol. Sci. 2023, 24(15), 12357; https://doi.org/10.3390/ijms241512357 - 02 Aug 2023
Viewed by 839
Abstract
We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on [...] Read more.
We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the POMC gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38–45 of the DMD (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del). Full article
(This article belongs to the Special Issue Distribution and Regularity of Genetic Epidemiology Interpreted from Molecular Perspective)
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