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Biomedicines
Special Issues
Genetics and Genomics of Congenital Diseases
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Genetics and Genomics of Congenital Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 14415

Special Issue Editor

Dr. Peng-Chieh Chen

E-Mail Website
Guest Editor
Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
Interests: molecular genetics; genome medicine; rare genetic diseases

Special Issue Information

Dear Colleagues,

The practice genome medicine has revolutionized our approaches to medical care. With the recent advancement of sequencing technologies, molecular diagnosis of many of the congenital diseases can now be achieved timely and cost effectively. However, the emerging need for defining the causative role of rare or novel genetic variations in congenital diseases is indispensable. The aim of this Special Issue is to highlight recent progress in using the genetic and genomic approaches to improve the care of congenital diseases.

We welcome reviews, original research articles, that focus on or are relevant to multidisciplinary genetic and genomic of congenital diseases, including Mendelian, polygenic or complex traits disorders. Studies with cell biology, molecular biology, model organisms, advanced sequencing or genome editing technologies that elucidate the underlying disease-causing mechanisms and therapeutic approaches are encouraged.

Dr. Peng-Chieh Chen
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. Biomedicines 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 genetic diseases
  • whole genome sequencing
  • whole exome sequencing
  • molecular mechanisms
  • genetic and genomic testing
  • genetic counseling

Published Papers (3 papers)

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Research

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15 pages, 1591 KiB  
Article
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
by Meng-Che Tsai, Yun-Han Weng, Yu-Fang Lin, Yi-Chieh Wang, Hui-Wen Yu, Yen-Yin Chou and Peng-Chieh Chen
Biomedicines 2023, 11(2), 242; https://doi.org/10.3390/biomedicines11020242 - 17 Jan 2023
Viewed by 1506
Abstract
Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown. Despite the advent of genetic testing, current investigations of the causes of DSDs allow genetic-mechanism identification in [...] Read more.
Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown. Despite the advent of genetic testing, current investigations of the causes of DSDs allow genetic-mechanism identification in about 20–35% of cases. This study aimed primarily to establish a rapid and high-throughput genetic test for undervirilized males with and without additional dysmorphic features. Routine chromosomal and endocrinological investigations were performed as part of DSD evaluation. We applied whole-exome sequencing (WES) complemented with multiplex ligation-dependent probe amplification to seek explainable genetic causes. Integrated computing programs were used to call and predict the functions of genetic variants. We recruited 20 patients and identified the genetic etiologies for 14 (70%) patients. A total of seven of the patients who presented isolated DSD phenotypes were found to have causative variants in the AR, MAP3K1, and FLNA genes. Moreover, the other seven patients presented additional phenotypes beyond undervirilized genitalia. Among them, two patients were compatible with CHARGE syndrome, one with Robinow syndrome, and another three with hypogonadotropic hypogonadism. One patient, who carried a heterozygous FLNA mutation, also harbored a heterozygous PTPN11 mutation and thus presented some phenotypes of Noonan syndrome. We identified several genetic variants (12 nonsense mutations and one microdeletion) that account for syndromic and nonsyndromic DSDs in the Taiwanese population. The identification of these causative genes extended our current understanding of sex development and related congenital disorders. Full article
(This article belongs to the Special Issue Genetics and Genomics of Congenital Diseases)
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15 pages, 1983 KiB  
Article
Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
by Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri and Marco Cipolli
Biomedicines 2022, 10(4), 886; https://doi.org/10.3390/biomedicines10040886 - 12 Apr 2022
Cited by 9 | Viewed by 2508
Abstract
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of [...] Read more.
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of acute myeloid leukemia (AML) from an early age. Most SDS patients are heterozygous for the c.183-184TA>CT (K62X) SBDS nonsense mutation. Fortunately, a plethora of translational read-through inducing drugs (TRIDs) have been developed and tested for several rare inherited diseases due to nonsense mutations so far. The authors previously demonstrated that ataluren (PTC124) can restore full-length SBDS protein expression in bone marrow stem cells isolated from SDS patients carrying the nonsense mutation K62X. In this study, the authors evaluated the effect of a panel of ataluren analogues in restoring SBDS protein resynthesis and function both in hematological and non-hematological SDS cells. Besides confirming that ataluren can efficiently induce SBDS protein re-expression in SDS cells, the authors found that another analogue, namely NV848, can restore full-length SBDS protein synthesis as well, showing very low toxicity in zebrafish. Furthermore, NV848 can improve myeloid differentiation in bone marrow hematopoietic progenitors, enhancing neutrophil maturation and reducing the number of dysplastic granulocytes in vitro. Therefore, these findings broaden the possibilities of developing novel therapeutic options in terms of nonsense mutation suppression for SDS. Eventually, this study may act as a proof of concept for the development of similar approaches for other IBMFS caused by nonsense mutations. Full article
(This article belongs to the Special Issue Genetics and Genomics of Congenital Diseases)
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Review

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25 pages, 1354 KiB  
Review
Overview of Neural Tube Defects: Gene–Environment Interactions, Preventative Approaches and Future Perspectives
by Jasmina Isaković, Iva Šimunić, Denis Jagečić, Valentina Hribljan and Dinko Mitrečić
Biomedicines 2022, 10(5), 965; https://doi.org/10.3390/biomedicines10050965 - 21 Apr 2022
Cited by 9 | Viewed by 9523
Abstract
Neural tube defects (NTDs) are the second most common congenital malformations of humans, characterized by impaired development of the central nervous system. Even though the etiology of most birth defects remains undetermined, genetic and environmental risk factors in the background of NTDs have [...] Read more.
Neural tube defects (NTDs) are the second most common congenital malformations of humans, characterized by impaired development of the central nervous system. Even though the etiology of most birth defects remains undetermined, genetic and environmental risk factors in the background of NTDs have been identified and extensively reported. On top of genetic and nutritional risks which include mutations in both coding and non-coding regions and maternal folate status, respectively, recent years have seen a rise in the identification of a variety of teratogens that could be implicated in NTD development. These include polycyclic aromatic hydrocarbons, arsenic, pesticides, maternal hyperthermia and antibiotics as well as pain and seizure medication. With an increase in understanding of teratogens leading to NTD formation, preventative and treatment approaches have witnessed great advances throughout the years. While the most common preventative approach includes folic acid food fortification as well as suggested inositol supplementation, treatment and management approaches differ greatly depending on the developmental stage and the site of the lesion and include prenatal surgery, stem cell transplantation and postnatal surgery. Because NTDs still represent a large health and financial burden for the patient and society as a whole, it is crucial to investigate potential risk factors and develop novel approaches in order to fully prevent this category of disorders. Full article
(This article belongs to the Special Issue Genetics and Genomics of Congenital Diseases)
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