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Genetics and Genomics of Rare Disorders Volume II
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Genetics and Genomics of Rare Disorders Volume II

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

Deadline for manuscript submissions: 25 July 2024 | Viewed by 3397

Special Issue Editor

Dr. Stefania Zampatti

E-Mail Website
Guest Editor
Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy
Interests: genetic counseling; neurogenetics; pharmacogenetics; rare disorders; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Since the first generation of DNA sequences, genetic analyses have gradually been introduced in clinical practice to support the diagnosis of rare disorders. Initially, loci and gene identification allowed geneticists to estimate transmission patterns and define recurrence risks of genetic Mendelian disorders.

To date, innovative molecular and cytogenetic technologies (i.e., next-generation sequencing, genomic arrays, and epigenetic analyses) have been able to support diagnostic protocols, providing a timely diagnosis and early assistance. At the same time, the discovery of novel genetic etiologies for rare disorders is very important for the improvement in the diagnosis and genotype–phenotype definitions, also supporting the development of novel therapies.

This Special Issue, entitled “Genetics and Genomics of Rare Disorders Volume II”, aims to present molecular and clinical aspects of rare genetic disorders. We encourage the submissions of reviews, original articles, and communications covering various aspects of the genetics and genomics of rare disorders. These include aspects related, but not limited, to the following topics: novel diagnostic approaches, genotype–phenotype correlations, application of research data into clinical practice, epigenetic approaches to rare disorders, functional studies, and animal models.

Dr. Stefania Zampatti
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

  • rare variants
  • next-generation sequencing
  • genotype–phenotype correlations
  • rare hereditary disorders
  • diagnoses

Published Papers (4 papers)

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Research

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14 pages, 2039 KiB  
Article
The ENG/VEGFα Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a Chinese Family
by Kemeng Liu, Jiewen Fu, Kan Guo, Mazaher Maghsoudloo, Jingliang Cheng and Junjiang Fu
Genes 2024, 15(3), 304; https://doi.org/10.3390/genes15030304 - 27 Feb 2024
Viewed by 866
Abstract
Hereditary hemorrhagic telangiectasia (HHT), also called Rendu–Osler syndrome, is a group of rare genetic diseases characterized by autosomal dominance, multisystemic vascular dysplasia, and age-related penetrance. This includes arteriovenous malformations (AVMs) in the skin, brain, lung, liver, and mucous membranes. The correlations between the [...] Read more.
Hereditary hemorrhagic telangiectasia (HHT), also called Rendu–Osler syndrome, is a group of rare genetic diseases characterized by autosomal dominance, multisystemic vascular dysplasia, and age-related penetrance. This includes arteriovenous malformations (AVMs) in the skin, brain, lung, liver, and mucous membranes. The correlations between the phenotype and genotype for HHT are not clear. An HHT Chinese pedigree was recruited. Whole exome sequencing (WES) analysis, Sanger verification, and co-segregation were conducted. Western blotting was performed for monitoring ENG/VEGFα signaling. As a result, a nonsense, heterozygous variant for ENG/CD105: c.G1169A:p. Trp390Ter of the proband with hereditary hemorrhagic telangiectasia type 1 (HHT1) was identified, which co-segregated with the disease in the M666 pedigree. Western blotting found that, compared with the normal levels associated with non-carrier family members, the ENG protein levels in the proband showed approximately a one-half decrease (47.4% decrease), while levels of the VEGFα protein, in the proband, showed approximately a one-quarter decrease (25.6% decrease), implying that ENG haploinsufficiency, displayed in the carrier of this variant, may affect VEGFα expression downregulation. Pearson and Spearman correlation analyses further supported TGFβ/ENG/VEGFα signaling, implying ENG regulation in the blood vessels. Thus, next-generation sequencing including WES should provide an accurate strategy for gene diagnosis, therapy, genetic counseling, and clinical management for rare genetic diseases including that in HHT1 patients. Full article
(This article belongs to the Special Issue Genetics and Genomics of Rare Disorders Volume II)
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Review

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18 pages, 892 KiB  
Review
Innovations in Medicine: Exploring ChatGPT’s Impact on Rare Disorder Management
by Stefania Zampatti, Cristina Peconi, Domenica Megalizzi, Giulia Calvino, Giulia Trastulli, Raffaella Cascella, Claudia Strafella, Carlo Caltagirone and Emiliano Giardina
Genes 2024, 15(4), 421; https://doi.org/10.3390/genes15040421 - 28 Mar 2024
Viewed by 704
Abstract
Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position, using an innovative language model developed by OpenAI. Thanks to the use of [...] Read more.
Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position, using an innovative language model developed by OpenAI. Thanks to the use of deep learning techniques, ChatGPT stands out as an exceptionally viable tool, renowned for generating human-like responses to queries. Various medical specialties, including rheumatology, oncology, psychiatry, internal medicine, and ophthalmology, have been explored for ChatGPT integration, with pilot studies and trials revealing each field’s potential benefits and challenges. However, the field of genetics and genetic counseling, as well as that of rare disorders, represents an area suitable for exploration, with its complex datasets and the need for personalized patient care. In this review, we synthesize the wide range of potential applications for ChatGPT in the medical field, highlighting its benefits and limitations. We pay special attention to rare and genetic disorders, aiming to shed light on the future roles of AI-driven chatbots in healthcare. Our goal is to pave the way for a healthcare system that is more knowledgeable, efficient, and centered around patient needs. Full article
(This article belongs to the Special Issue Genetics and Genomics of Rare Disorders Volume II)
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22 pages, 1135 KiB  
Review
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
by Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino and Roberta Onesimo
Genes 2024, 15(3), 346; https://doi.org/10.3390/genes15030346 - 8 Mar 2024
Viewed by 1063
Abstract
Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial [...] Read more.
Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients. Full article
(This article belongs to the Special Issue Genetics and Genomics of Rare Disorders Volume II)
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Other

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9 pages, 1970 KiB  
Case Report
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease
by Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli and Giuseppe Novelli
Genes 2024, 15(5), 597; https://doi.org/10.3390/genes15050597 - 8 May 2024
Viewed by 269
Abstract
Alport Syndrome (AS) is the most common genetic glomerular disease, and it is caused by COL4A3, COL4A4, and COL4A5 pathogenic variants. The classic phenotypic spectrum associated with AS ranges from isolated hematuria to chronic kidney disease (CKD) with extrarenal abnormalities. Atypical [...] Read more.
Alport Syndrome (AS) is the most common genetic glomerular disease, and it is caused by COL4A3, COL4A4, and COL4A5 pathogenic variants. The classic phenotypic spectrum associated with AS ranges from isolated hematuria to chronic kidney disease (CKD) with extrarenal abnormalities. Atypical presentation of the disorder is possible, and it can mislead the diagnosis. Polycystic kidney disease (PKD), which is most frequently associated with Autosomal Dominant PKD (ADPKD) due to PKD1 and PKD2 heterozygous variants, is emerging as a possible clinical manifestation in COL4A3-A5 patients. We describe a COL4A5 novel familial frameshift variant (NM_000495.5: c.1095dup p.(Leu366ValfsTer45)), which was associated with AS and PKD in the hemizygous proband, as well as with PKD, IgA glomerulonephritis and focal segmental glomerulosclerosis (FSGS) in the heterozygous mother. Establishing the diagnosis of AS can sometimes be difficult, especially in the context of misleading family history and atypical phenotypic features. This case study supports the emerging genotypic and phenotypic heterogeneity in COL4A3-A5-associated disorders, as well as the recently described association between PKD and collagen type IV (Col4) defects. We highlight the importance of the accurate phenotyping of all family members and the relevance of next-generation sequencing in the differential diagnosis of hereditary kidney disease. Full article
(This article belongs to the Special Issue Genetics and Genomics of Rare Disorders Volume II)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: A Novel COL4A5 pathogenic variant joins the dots in a family with a synchronous diagnosis of Alport Syndrome and Polycystic Kidney Disease
Authors: -
Affiliation: -

Title: Dual molecular diagnoses of Cutis Laxa and Noonan Syndrome in Rwandan Individuals: A differential analysis of the facial dysmorphism with GestaltMatcher
Authors: -
Affiliation: -

Title: Patient decision-making for genetic testing of rare and common disorders: A scoping review of the literature
Authors: -
Affiliation: -

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