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Variations of Rare Genetic Diseases
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Variations of Rare Genetic Diseases

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 1347

Special Issue Editors

Dr. Rajech Sharkia

E-Mail Website
Guest Editor
1. Unit of Human Biology and Genetics, Triangle Regional Research and Development Center, Kfar Qari’ 3007500, Israel
2. Beit-Berl Academic College, Beit-Berl 4490500, Israel
Interests: genetic disorders; community genetics; consanguinity; public health; health education
Dr. Abdelnaser Zalan

E-Mail Website
Co-Guest Editor
Unit of Human Biology and Genetics, Triangle Regional Research and Development Center, Kfar Qari’ 3007500, Israel
Interests: genetic disorders; community genetics; consanguinity; public health; health education
Dr. Muhammad Mahajnah

E-Mail Website
Co-Guest Editor
1. Pediatrics Neurology and Child Development Institute, Hillel-Yaffe Medical Center, Hadera 38100, Israel
2. Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3200003, Israel
Interests: pediatric neurogenetic disorders; neurodevelopmental disorders; pediatric neurology; public health

Special Issue Information

Dear Colleagues,

Genetic diseases, especially autosomal recessive diseases, are rare in the general population. However, they become unusually frequent in certain communities worldwide as a result of genetic isolation due to social, geographic, or religious factors. When a new mutation is inserted in such a population it spreads rapidly, leading to an increased prevalence of carriers and many homozygous individuals being affected. There are high frequencies of genetic diseases and congenital disorders among many communities worldwide, especially wherever high rates of consanguineous marriages exist. It is estimated that around 80% of rare diseases are genetic, and most of them clinically present during childhood. Therefore, an investigation of hereditary disorders is vital for improving health care. This can be achieved by identifying and diagnosing their molecular genetic basis to develop preventive intervention measures aimed at reducing the occurrence of these inherited genetic disorders.

This Special Issue aims to focus on rare genetic diseases that include genotype–phenotype correlations, disease gene discovery, pathogenetic mechanisms, novel gene variants, and phenotypic expansion. We welcome various original articles and reviews that address these topics.

Dr. Rajech Sharkia
Dr. Abdelnaser Zalan
Dr. Muhammad Mahajnah
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. 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 genetic diseases
  • genotype–phenotype correlations
  • gene variants
  • whole-exome sequencing
  • genes
  • neurogenetic diseases
  • neurodegenerative diseases

Published Papers (2 papers)

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Research

11 pages, 477 KiB  
Article
Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis
by Hui Wang, Liping Guan, Xiaojuan Ma, Yiying Wang, Jinhao Wang, Peipei Zhang and Min Deng
Genes 2024, 15(6), 680; https://doi.org/10.3390/genes15060680 - 24 May 2024
Viewed by 222
Abstract
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive damage to both upper and lower motor neurons. Genetic factors are known to play a crucial role in ALS, as genetic studies not only advance our comprehension of disease mechanisms but [...] Read more.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive damage to both upper and lower motor neurons. Genetic factors are known to play a crucial role in ALS, as genetic studies not only advance our comprehension of disease mechanisms but also help unravel the complex phenotypes exhibited by patients. To gain further insights into the genetic landscape of ALS in the Chinese population and explore genotype–phenotype correlations among individuals, we conducted whole-genome sequencing to screen genes in 34 Chinese familial ALS (FALS) probands lacking the most common ALS-associated genes. Within this cohort, we identified a rare heterozygous missense mutation in the N-terminal domain of KIF5A (c.86A>G) in one of the probands. This finding is significant as mutations in the KIF5A gene have been implicated in ALS in European cohorts since 2018, predominantly characterized by C-terminal mutations. Analysis of the clinical phenotype within this familial lineage revealed a delayed onset of symptoms, an extended survival duration, and initial manifestations in both upper limbs. These observations underscore the clinical heterogeneity observed in ALS patients harboring KIF5A mutations. In conclusion, our study contributes to the growing body of evidence linking KIF5A to ALS and enhances our understanding of the intricate genetic landscape of this disease. Full article
(This article belongs to the Special Issue Variations of Rare Genetic Diseases)
14 pages, 1867 KiB  
Article
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
by Nasrin Tamanna, Byung Kwon Pi, Ah Jin Lee, Sumaira Kanwal, Byung-Ok Choi and Ki Wha Chung
Genes 2024, 15(4), 485; https://doi.org/10.3390/genes15040485 - 11 Apr 2024
Viewed by 853
Abstract
Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength. It is primarily associated with mutations in the GNE gene, which encodes a key enzyme of [...] Read more.
Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength. It is primarily associated with mutations in the GNE gene, which encodes a key enzyme of sialic acid biosynthesis (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase). This study was performed to find GNE mutations in six independent distal myopathy patients with or without peripheral neuropathy using whole-exome sequencing (WES). In silico pathogenic prediction and simulation of 3D structural changes were performed for the mutant GNE proteins. As a result, we identified five pathogenic or likely pathogenic missense variants: c.86T>C (p.Met29Thr), c.527A>T (p.Asp176Val), c.782T>C (p.Met261Thr), c.1714G>C (p.Val572Leu), and c.1771G>A (p.Ala591Thr). Five affected individuals showed compound heterozygous mutations, while only one patient revealed a homozygous mutation. Two patients revealed unreported combinations of combined heterozygous mutations. We observed some specific clinical features, such as complex phenotypes of distal myopathy with distal hereditary peripheral neuropathy, an earlier onset of weakness in legs than that of hands, and clinical heterogeneity between two patients with the same set of compound heterozygous mutations. Our findings on these genetic causes expand the clinical spectrum associated with the GNE mutations and can help prepare therapeutic strategies. Full article
(This article belongs to the Special Issue Variations of Rare Genetic Diseases)
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