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Genetic and Molecular Basis of Inherited Diseases
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Genetic and Molecular Basis of Inherited Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 July 2022) | Viewed by 6470

Special Issue Editor

Prof. Dr. Stavit Allon Shalev

E-Mail Website
Guest Editor
Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel
Interests: rare disorders; consanguinity; monogenic diseases

Special Issue Information

Dear Colleagues,

Our field of medical genetics has been revolutionized in the past few decades, and has become a field in which clinical, genomics and functional studies routinely merge. There is a fruitful outcome, which is prominent in rare human genetic disorders. NGS analyses, including exome and whole genome data, frequently lead to the discovery of novel diseases. The establishment of cohorts of patients with rare disorders allows the delineation of their natural history and the development of clinical trials. This activity constantly leads to understanding the mechanisms of various genetic disorders, resulting in the development of new treatments. The publication of new updated findings might contribute significantly to the scientific medical world, providing insights into the evolving picture of the genetic basis of inherited diseases. Authors are invited to contribute their own productive research to this Special Issue of Genes, dedicated to the “Genetic and Molecular Basis of Inherited Diseases”.

Prof. Dr. Stavit Allon Shalev
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.

Keywords

  • inherited disorder
  • monogenic condition
  • genetic basis
  • molecular mechanism
  • rare diseases

Published Papers (2 papers)

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Research

11 pages, 620 KiB  
Article
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population
by Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft and David J. Keegan
Genes 2022, 13(4), 615; https://doi.org/10.3390/genes13040615 - 29 Mar 2022
Cited by 4 | Viewed by 2936
Abstract
Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., [...] Read more.
Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a “telegenetics” approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland. Full article
(This article belongs to the Special Issue Genetic and Molecular Basis of Inherited Diseases)
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17 pages, 5157 KiB  
Article
CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma
by Jihenne Ben Aissa-Haj, Maria Kabbage, Houcemeddine Othmen, Patrick Saulnier, Haifa Tounsi Kettiti, Amira Jaballah-Gabteni, Azer Ferah, Mouna Medhioub, Amal Khsiba, Moufida Mahmoudi, Afifa Maaloul, Sonia Ben Nasr, Emna Chelbi, Sonia Abdelhak, M. Samir Boubaker, Mohamed Mousaddak Azzouz and Etienne Rouleau
Genes 2022, 13(3), 400; https://doi.org/10.3390/genes13030400 - 23 Feb 2022
Cited by 3 | Viewed by 2626
Abstract
Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial step for the clinical management of patients at [...] Read more.
Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial step for the clinical management of patients at high risk for HDGC. The aim of our study was to identify CDH1 as well as CTNNA1 mutational profiles predisposing to HDGC in Tunisia. Thirty-four cases were included for this purpose. We performed Sanger sequencing for the entire coding region of both genes and MLPA (Multiplex Ligation Probe Amplification) assays to investigate large rearrangements of the CDH1 gene. As a result, three cases, all with the HDGC inclusion criteria (8.82% of the entire cohort), carried pathogenic and likely pathogenic variants of the CDH1 gene. These variants involve a novel splicing alteration, a missense c.2281G > A detected by Sanger sequencing, and a large rearrangement detected by MLPA. No pathogenic CTNNA1 variants were found. The large rearrangement is clearly pathogenic, implicating a large deletion of two exons. The novel splicing variant creates a cryptic site. The missense variant is a VUS (Variant with Uncertain Significance). With ACMG (American College of Medical Genetics and Genomics) classification and the evidence available, we thus suggest a revision of its status to likely pathogenic. Further functional studies or cosegregation analysis should be performed to confirm its pathogenicity. In addition, molecular exploration will be needed to understand the etiology of the other CDH1- and CTNNA1-negative cases fulfilling the HDGC inclusion criteria. Full article
(This article belongs to the Special Issue Genetic and Molecular Basis of Inherited Diseases)
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