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Medicina
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Array Comparative Genomic Hybridization and Next Generation Sequencing in Molecular...
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Array Comparative Genomic Hybridization and Next Generation Sequencing in Molecular Diagnostics of Genetic Diseases: Novel Applications and Future Perspectives

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 9040

Special Issue Editors

Dr. Valeria D’Argenio

E-Mail Website
Guest Editor
1. Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, Via di Val Cannuta 247, 00166 Rome, Italy
2. CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy
Interests: next generation sequencing; genomics; cancer genomics; hereditary cancers; metagenomics; human microbiome; molecular diagnostics
Special Issues, Collections and Topics in MDPI journals
Dr. Barbara Lombardo

E-Mail Website
Guest Editor
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", 80131 Napoli, Italy
Interests: genetic; biochemistry; molecular biology

Special Issue Information

Dear Colleagues,

In recent years, molecular diagnostics has become even more important in clinical settings due to the availability of highly sensitive technologies, such as array CGH and NGS, which provide the detection of molecular alterations with a higher resolution, accuracy, and specificity. As a consequence, the study of genetic diseases has been enhanced, and an increasing number of tests and tools are now available to better understand and define not only mechanisms underlying disease onset but also to design novel therapeutic strategies. Given the complexity of this topic and its impact on clinical practice and patient management, Medicina is launching a Special Issue entitled “Array Comparative Genomic Hybridization and Next-Generation Sequencing in Molecular Diagnostics of Genetic Diseases: Novel Applications and Future Perspectives” with the aim to provide a comprehensive view of the state of the art and future perspectives of molecular diagnostics also based on novel technological approaches. We are pleased to invite you and your co-workers to submit your original research articles reporting on the use of advanced molecular technologies for both the in-depth study of intriguing medical cases and the routine use of these diagnostic tools. We would also like to invite you to submit review articles aimed at providing a comprehensive overview of recent advances in molecular diagnostics.

Dr. Valeria D’Argenio
Dr. Barbara Lombardo
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 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. Medicina 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 1800 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

  • molecular diagnostics
  • array CGH
  • NGS
  • genetic diseases
  • molecular tests
  • genomic alterations

Published Papers (4 papers)

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Review

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10 pages, 1033 KiB  
Review
Current Updates on Expanded Carrier Screening: New Insights in the Omics Era
by Iolanda Veneruso, Chiara Di Resta, Rossella Tomaiuolo and Valeria D’Argenio
Medicina 2022, 58(3), 455; https://doi.org/10.3390/medicina58030455 - 21 Mar 2022
Cited by 6 | Viewed by 3023
Abstract
Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of [...] Read more.
Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a time and cost-affordable way, has moved carrier screening toward a more comprehensive and extensive approach, i.e., expanded carrier screening (ECS). ECS simultaneously analyses several disease-related genes and better estimates individuals’ carrier status. Indeed, it is not influenced by ethnicity and is not limited to a subset of mutations that may arise from poor information in some populations. Moreover, if couples carry out ECS before conceiving a baby, it allows them to obtain a complete estimation of their genetic risk and the possibility to make an informed decision regarding their reproductive life. Despite these advantages, some weakness still exists regarding, for example, the number of genes and the kind of diseases to be analyzed and the interpretation and communication of the obtained results. Once these points are fixed, it is expectable that ECS will become an ever more frequent practice in clinical settings. Full article
(This article belongs to the Special Issue Array Comparative Genomic Hybridization and Next Generation Sequencing in Molecular Diagnostics of Genetic Diseases: Novel Applications and Future Perspectives)
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7 pages, 548 KiB  
Case Report
The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy
by Giovanna Maione, Fernanda Iafusco, Angela Zanfardino, Alessia Piscopo, Gulsum Ozen, Dario Iafusco and Nadia Tinto
Medicina 2023, 59(2), 310; https://doi.org/10.3390/medicina59020310 - 08 Feb 2023
Viewed by 1440
Abstract
In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1–6% of all pediatric–adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis [...] Read more.
In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1–6% of all pediatric–adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis of MD, possible only by genetic testing, allows us to direct patients to more appropriate therapy in relation to the identified mutation. In some cases, MD patients can avoid insulin and be treated with oral hypoglycemic drugs with a perceptible impact on both the quality of life and the healthcare costs. However, the genetic and phenotypic heterogeneity of MD and the overlapping clinical characteristics between different forms, can complicate the diagnostic process. In recent years, the development of Next-Generation Sequencing (NGS) methodology, which allows the simultaneous analysis of multiple genes, has revolutionized molecular diagnostics, becoming the cornerstone of MD precision diagnosis. We report two cases of patients with clinical suspects of MD in which a genetic test was carried out, using a NGS multigenic panel, and it clarified the correct pathogenesis of diabetes, allowing us to better manage the disease both in probands and other affected family members. Full article
(This article belongs to the Special Issue Array Comparative Genomic Hybridization and Next Generation Sequencing in Molecular Diagnostics of Genetic Diseases: Novel Applications and Future Perspectives)
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7 pages, 786 KiB  
Case Report
Identification of a De Novo Deletion by Using A-CGH Involving PLNAX2: An Interesting Candidate Gene in Psychomotor Developmental Delay
by Noemi Falcone, Annaluisa Ranieri, Andrea Vitale, Lucio Pastore and Barbara Lombardo
Medicina 2022, 58(4), 524; https://doi.org/10.3390/medicina58040524 - 08 Apr 2022
Cited by 2 | Viewed by 1732
Abstract
Psychomotor developmental delay is a disorder with a prevalence of 12–18% in the pediatric population, characterized by the non-acquisition of motor, cognitive and communication skills during the child’s development, in relation to chronological age. An appropriate neuropsychomotor evaluation and the use of new [...] Read more.
Psychomotor developmental delay is a disorder with a prevalence of 12–18% in the pediatric population, characterized by the non-acquisition of motor, cognitive and communication skills during the child’s development, in relation to chronological age. An appropriate neuropsychomotor evaluation and the use of new technologies, such as Array Comparative Genomic Hybridization (a-CGH) and Next-generation sequencing (NGS), can contribute to early diagnosis and improving the quality of life. In this case, we have analyzed a boy aged 2 years and 8 months, with a diagnosis of psychomotor developmental delay, mainly in the area of communication and language. The a-CGH analysis identified three de novo deletions of uncertain clinical significance, involving PLXNA2 (1q32.2), PRELID2, GRXCR2 and SH3RF2 (5q32), RIMS1 (6q13), and a heterozygous duplication of maternal origin involved three genes: HELZ, PSMD12 and PITPNC1 (17q24.2). Among all these alterations, our attention focused on the PLXNA2 gene because of the central function that plexin 2 carries out in the development of the central nervous system. However, all genes detected in the analysis could contribute to the phenotypic characteristics of the patient. Full article
(This article belongs to the Special Issue Array Comparative Genomic Hybridization and Next Generation Sequencing in Molecular Diagnostics of Genetic Diseases: Novel Applications and Future Perspectives)
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11 pages, 905 KiB  
Case Report
Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report
by Annaluisa Ranieri, Iolanda Veneruso, Ilaria La Monica, Maria Grazia Pascale, Lucio Pastore, Valeria D’Argenio and Barbara Lombardo
Medicina 2022, 58(4), 522; https://doi.org/10.3390/medicina58040522 - 07 Apr 2022
Cited by 3 | Viewed by 1972
Abstract
Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a [...] Read more.
Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a group of heterogeneous diseases with multifactorial origins. Genetic factors seem to be involved, albeit they remain still largely unknown. Here, we report the case of a child with a clinical suspicion of ASD investigated by using such a genomic high-resolution approach. Materials and Methods: Both array comparative genomic hybridization (aCGH) and exome sequencing were carried out on the family trio. aCGH was performed using the 4 × 180 K SurePrint G3 Human CGH Microarray, while the Human All Exon V7 targeted SureSelect XT HS panel was used for exome sequencing. Results: aCGH identified a paternally inherited duplication of chromosome 7 involving the CNTNAP2 gene, while 5 potentially clinically-relevant variants were identified by exome sequencing. Conclusions: Within the identified genomic alterations, the CNTNAP2 gene duplication may be related to the patient’s phenotype. Indeed, this gene has already been associated with brain development and cognitive functions, including language. The paternal origin of the alteration cannot exclude an incomplete penetrance. Moreover, other genomic factors may act as phenotype modifiers combined with CNTNAP2 gene duplication. Thus, the case reported herein strongly reinforces the need to use extensive genomic analyses to shed light on the bases of complex diseases. Full article
(This article belongs to the Special Issue Array Comparative Genomic Hybridization and Next Generation Sequencing in Molecular Diagnostics of Genetic Diseases: Novel Applications and Future Perspectives)
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