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Biomedicines
Special Issues
Genetics Research of Rare Human Diseases
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Genetics Research of Rare Human 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 January 2023) | Viewed by 6149

Special Issue Editor

Dr. Lisa Gianesello

E-Mail Website
Guest Editor
Clinical Medicine 1, Department of Medicine, University of Padua, Padua, Italy
Interests: genetics; rare diseases; molecular biology; cell biology

Special Issue Information

Dear Colleagues,

Inherited rare genetic disorders are, by definition, low-frequency diseases, but since thousands of different diseases exist, millions of people around the world are affected. Rare diseases can be a powerful tool in understanding new molecular pathways since they can present a high grade of heterogeneity (both in genetics and/or in phenotype).

The aim of this Special Issue is to highlight new molecular and cellular mechanisms underlying these congenital diseases, as well as new therapeutic targets and/or treatments.

We cordially invite authors in the field to submit reviews or original research articles highlighting new advances in understanding and treating rare diseases.

Dr. Lisa Gianesello
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
  • rare diseases
  • molecular mechanisms
  • cellular mechanisms
  • therapy

Published Papers (3 papers)

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Research

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13 pages, 1504 KiB  
Article
Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis
by Dżamila M. Bogusławska, Sebastian Kraszewski, Michał Skulski, Stanisław Potoczek, Kazimierz Kuliczkowski and Aleksander F. Sikorski
Biomedicines 2023, 11(3), 784; https://doi.org/10.3390/biomedicines11030784 - 5 Mar 2023
Cited by 1 | Viewed by 1630
Abstract
Hereditary spherocytosis (HS) refers to the group of the most frequently occurring non-immune hereditary hemolytic anemia in people of Caucasian central or northern European ancestry. HS is mainly associated with pathogenic variants of genes encoding defects in five membrane proteins, including anion exchanger [...] Read more.
Hereditary spherocytosis (HS) refers to the group of the most frequently occurring non-immune hereditary hemolytic anemia in people of Caucasian central or northern European ancestry. HS is mainly associated with pathogenic variants of genes encoding defects in five membrane proteins, including anion exchanger 1 encoded by the SLC4A1 gene. In this study, in a family affected with HS, we identified a hitherto unreported AE1 defect, variant p.G720W. The result of it is most likely the HS phenotype. Molecular dynamics simulation study of the AE1 transmembrane domain may indicate reasonable changes in AE1 domain structure, i.e., significant displacement of the tryptophan residue towards the membrane surface connected with possible changes in AE1 function. The WES analysis verified by classical sequencing in conjunction with biochemical analysis and molecular simulation studies shed light on the molecular mechanism underlying this case of hereditary spherocytosis, for which the newly discovered AE1 variant p.G720W seems crucial. Full article
(This article belongs to the Special Issue Genetics Research of Rare Human Diseases)
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14 pages, 1158 KiB  
Article
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
by Anton Tyurin, Elena Merkuryeva, Aliya Zaripova, Tatyana Markova, Tatyana Nagornova, Ilya Dantsev, Dina Nadyrshina, Ekaterina Zakharova and Rita Khusainova
Biomedicines 2022, 10(10), 2363; https://doi.org/10.3390/biomedicines10102363 - 22 Sep 2022
Cited by 5 | Viewed by 1946
Abstract
Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures [...] Read more.
Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures and skeletal deformities. However, the clinical manifestations of different types of OI are characterized by marked polymorphism with variable severity of skeletal and extra-skeletal features. Previous studies have shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V. However, the mutation has a variable expression pattern and marked clinical heterogeneity. In this study, a clinical and genetic analysis of 12 cases with molecularly confirmed OI type V from 12 unrelated families was performed. Significant clinical heterogeneity of the disease with the same molecular defect was detected. In six subjects (50%), there were no classic signs of OI type V (formation of a hyperplastic bone callus, calcification of the interosseous membrane and dislocation of the radial head). In all cases, the mutation occurred de novo. Full article
(This article belongs to the Special Issue Genetics Research of Rare Human Diseases)
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Review

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18 pages, 752 KiB  
Review
Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases
by Valentina La Cognata and Sebastiano Cavallaro
Biomedicines 2022, 10(8), 1836; https://doi.org/10.3390/biomedicines10081836 - 29 Jul 2022
Viewed by 1984
Abstract
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard for diagnosis of symptomatic [...] Read more.
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard for diagnosis of symptomatic patients, genotyping is a requirement for inclusion in enzyme replacement programs and is a prerequisite for carrier tests in relatives and DNA-based prenatal diagnosis. The emerging next-generation sequencing (NGS) technologies are now offering a powerful diagnostic tool for genotyping LSDs patients by providing faster, cheaper, and higher-resolution testing options, and are allowing to unravel, in a single integrated workflow SNVs, small insertions and deletions (indels), as well as major structural variations (SVs) responsible for the pathology. Here, we summarize the current knowledge about the most recurrent and private SVs involving LSDs-related genes, review advantages and drawbacks related to the use of the NGS in the SVs detection, and discuss the challenges to bring this type of analysis in clinical diagnostics. Full article
(This article belongs to the Special Issue Genetics Research of Rare Human Diseases)
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