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Advances in Neurogenetics and Neurogenomics
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Advances in Neurogenetics and Neurogenomics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: closed (25 May 2025) | Viewed by 1188

Special Issue Editors

Prof. Dr. Ivailo L. Tournev

E-Mail Website
Guest Editor
1. Alexandrovska University Hospital, Sofia, Bulgaria
2. Department of cognitive science and psychology, New Bulgarian University, Sofia, Bulgaria
Interests: clinical neurogenetics; neuromuscular diseases; ATTR amyloidoisis; metabolic diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Teodora Chamova

E-Mail Website
Guest Editor
University Hospital Alexandrovska, Sofia, Bulgaria
Interests: neurology; genetic disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue will be dedicated to the advances in the genetics of some degenerative disorders of the central and peripheral nervous systems and muscles.

It will encompass a wide spectrum of genetic neurologic diseases.

As some of these disorders have approved therapies or treatment in development, their early diagnosis is crucial, even is atypical cases.

The main topics that will be covered are related to the following:

  • Ataxia teleangiectasia—a variant form among a religious minority of Bulgarian muslims;
  • HATTR amyloidosis—a rare disease in an endemic country;
  • Genetics of amyotrophic lateral sclerosis;
  • Phenotypic variability of LGMD 2C in a genetically homogenous group of Bulgarian Roma;
  • Genetics of epilepsy;
  • An atypical case of ethilmalonic acidemia.

Prof. Dr. Ivailo L. L. Tournev
Dr. Teodora Chamova
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

  • neurologic diseases
  • genetics
  • epilepsy
  • degenerative disorders
  • diagnosis

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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13 pages, 3756 KiB  
Article
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency
by Davide Politano, Cecilia Mancini, Massimiliano Celario, Francesca Clementina Radio, Fulvio D'Abrusco, Jessica Garau, Silvia Kalantari, Gaia Visani, Simone Carbonera, Simone Gana, Marco Ferilli, Luigi Chiriatti, Camilla Cappelletti, Katia Ellena, Elena Prodi, Renato Borgatti, Enza Maria Valente, Simona Orcesi, Marco Tartaglia and Fabio Sirchia
Genes 2025, 16(7), 799; https://doi.org/10.3390/genes16070799 - 2 Jul 2025
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Abstract
Background/Objectives: Neurodevelopmental disorders (NDDs) represent a clinically diverse group of conditions that affect brain development, often leading to varying degrees of functional impairment. Many NDDs, particularly syndromic forms, are caused by genetic mutations affecting critical cellular pathways. Ribosomopathies, a subgroup of NDDs, are [...] Read more.
Background/Objectives: Neurodevelopmental disorders (NDDs) represent a clinically diverse group of conditions that affect brain development, often leading to varying degrees of functional impairment. Many NDDs, particularly syndromic forms, are caused by genetic mutations affecting critical cellular pathways. Ribosomopathies, a subgroup of NDDs, are linked to defects in ribosomal function, including those involving the synthesis of diphthamide, a post-translational modification of translation elongation factor 2 (eEF2). Loss-of-function (LoF) mutations in genes involved in diphthamide biosynthesis, such as DPH1, DPH2, and DPH5, result in developmental delay (DD), intellectual disability (ID), and multisystemic abnormalities. DPH5-related diphthamide deficiency syndrome has recently been reported as an ultrarare disorder linked to LoF mutations in DPH5, encoding a methyltransferase required for diphthamide synthesis. Methods: Clinical, neurological, and dysmorphological evaluations were performed by a multidisciplinary team. Brain MRI was acquired on a 3T scanner. Craniofacial abnormalities were assessed using the GestaltMatcher phenotyping tool. Whole exome sequencing (WES) was conducted on leukocyte-derived DNA with a trio-based approach. Bioinformatic analyses included variant annotation, filtering, and pathogenicity prediction using established databases and tools. Results: The affected subject carried a previously reported missense change, p.His260Arg, suggesting the occurrence of genotype–phenotype correlations and a hypomorphic behavior of the variant, likely explaining the overall milder phenotype compared to the previously reported patients with DPH5-related diphthamide deficiency syndrome. Conclusions: Overall, the co-occurrence of short stature, relative macrocephaly, congenital heart defects, variable DD/ID, minor skeletal and ectodermal features, and consistent craniofacial features suggests a differential diagnosis with Noonan syndrome and related phenotypes. Full article
(This article belongs to the Special Issue Advances in Neurogenetics and Neurogenomics)
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13 pages, 1330 KiB  
Article
Variant Ataxia–Telangiectasia Presenting as Tremor–Dystonia Syndrome in a Bulgarian Religious Minority
by Teodora Chamova, Tihomir Todorov, Paulius Palaima, Petya Yankova, Iliyana Pacheva, Ivan Ivanov, Bilyana Georgieva, Sylvia Cherninkova, Alexey Savov, Dora Zlatareva, Elisaveta Naumova, Albena Todorova, Albena Jordanova and Ivailo Tournev
Genes 2025, 16(6), 641; https://doi.org/10.3390/genes16060641 - 27 May 2025
Viewed by 393
Abstract
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder due to mutations in the ATM gene. Given the residual kinase activity and the type of ATM mutation, its clinical spectrum varies from a severe classic phenotype to a variant atypical form. Material and [...] Read more.
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder due to mutations in the ATM gene. Given the residual kinase activity and the type of ATM mutation, its clinical spectrum varies from a severe classic phenotype to a variant atypical form. Material and methods: This study included 28 patients belonging to four big Bulgarian Muslim pedigrees with tremor and dystonia. Whole-exome sequencing was performed in seven affected individuals from two unrelated pedigrees, followed by Sanger sequencing of the coding sequences and exon–intron borders of the ATM gene. Results: Twenty-four of the affected individuals were homozygous for c.8147T>C (p.Val2716Ala) in ATM, while four of the affected individuals were compound heterozygous. The targeted Sanger sequencing along the ATM gene revealed as a second mutation in three of the patients the splice-site variant c.4909+1G>A and in one patient a synonymous pathogenic variant with a splicing effect, c.3576G>A, p.Lys1192. The age at onset in our group varied between 14 days and 40 years. The main symptoms were dystonia and tremor, more prominent in the upper limbs and the neck, and dystonic dysarthria and dysphagia. The clinical course was very slowly progressive. Brain imaging was normal in the majority of the patients. Conclusion: Clinical features due to mutations in the ATM gene can be very broad. The disease may appear as dystonia, especially of early onset, without frank cerebellar involvement and also normal cerebral imaging. A-T should be considered in all patients with unexplained, even mild movement disorders and elevated α fetoprotein. Full article
(This article belongs to the Special Issue Advances in Neurogenetics and Neurogenomics)
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Other

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7 pages, 429 KiB  
Case Report
Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis
by Zornitsa Pavlova, Sashka Zhelyazkova, Mariana Gospodinova, Anastasia Ormandjieva, Tihomir Todorov, Ognian Asenov, Teodora Chamova, Plamen Antimov, Dilyana Mikova, Yordan Palashev, Ivailo Tournev and Albena Todorova
Genes 2025, 16(7), 726; https://doi.org/10.3390/genes16070726 - 22 Jun 2025
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Abstract
Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disorder caused by pathogenic variants in the TTR gene. The destabilized mutant form of the transport protein transthyretin (TTR) leads to the extracellular deposition of amyloid fibrils. Materials and Methods: A 65-year-old female patient with [...] Read more.
Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disorder caused by pathogenic variants in the TTR gene. The destabilized mutant form of the transport protein transthyretin (TTR) leads to the extracellular deposition of amyloid fibrils. Materials and Methods: A 65-year-old female patient with suspected clinical diagnosis of ATTR was referred for genetic testing for pathogenic variants in the TTR gene after physical, neurological and cardiac testing. Results: The patient had had cardiac dysfunction, atrial fibrillation and supraventricular tachycardia for around 10 years before the suspected and confirmed cardiac amyloidosis. The molecular genetic testing showed a heterozygous pathogenic variant in exon 3 of the TTR gene NM_000371.4(TTR): c.258A>C, p.(Glu86Asp). This variant in the TTR gene is classified as pathogenic in accordance with ACMG/AMP for the interpretation of variants. Conclusions: The presented case of a very rare pathogenic variant in the TTR gene displays the valuable role of genetic testing on the way to clarifying a diagnosis. Full article
(This article belongs to the Special Issue Advances in Neurogenetics and Neurogenomics)
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