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Genetic Diversity - Recent Advances and Applications in Inherited Metabolic...
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Genetic Diversity - Recent Advances and Applications in Inherited Metabolic Diseases

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

Deadline for manuscript submissions: closed (10 January 2024) | Viewed by 5669

Special Issue Editors

Dr. Aleksandra Jezela-Stanek

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Guest Editor
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland
Interests: inherited metabolic and neurodevelopmental disorders; multiple congenital malformations syndromes
Dr. Karolina M. Stepien

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Guest Editor
Adult Inherited Metabolic Department, Salford Royal NHS Foundation Trust, Manchester M6 8HD, UK
Interests: lysosomal storage diseases; mucopolysaccharidosis; cardiovascular risk; fucosidosis; mucolipidosis I, II, III and IV; secondary mitochondrial dysfunction; transition process; GM1 gangliosidosis; hematopoietic stem cell transplantation; hormonal dysfunction
Special Issues, Collections and Topics in MDPI journals
Dr. Elzbieta Ciara

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Guest Editor
Department of Medical Genetics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Interests: inherited metabolic and mitochondrial disorders; multiple congenital malformations syndromes; imprinting diseases

Special Issue Information

Dear Colleagues,

With advancements in DNA sequencing technology and massively parallel sequencing, genetic studies have allowed researchers to examine inborn errors of metabolism (IMDs) across the genome. This revolution has accelerated studies on human inherited diseases on an unprecedented scale.

Unfortunately, as the identification of underlying genetic defects has increased significantly in the last decade, the pathophysiology of most IMDs remains elusive, preventing effective treatment.

Finding specific causes for congenital genetic disorders gives hope for more effective early intervention and targeted therapies. In many cases it could also provide the only chance for reliable counselling for families about prognosis and recurrence risk.

We encourage submissions of unpublished, original manuscripts (research articles, reviews, case reports and letters) describing recent advances on all aspects of genetic causes of IMDs related, but not limited to, genetic variation and expression analyses, functional studies, and animal models. Clinical and molecular characteristics of new metabolic disorders, as well as therapeutic options, are also appreciated.

Dr. Aleksandra Jezela-Stanek
Dr. Karolina M. Stepien
Dr. Elzbieta Ciara
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

  • inherited errors of metabolism
  • genes variations
  • functional studies
  • treatment/personal medicine
  • phenotype–genotype correlation
  • known/novel molecular variants
  • single nucleotide variants
  • copy number variant
  • late-onset phenotype
  • clinical manifestations
  • unmet needs
  • health-related quality of life
  • next-generation sequencing
  • exome

Published Papers (3 papers)

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Research

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10 pages, 1205 KiB  
Article
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing
by Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz and Carlos Eduardo Steiner
Genes 2023, 14(12), 2219; https://doi.org/10.3390/genes14122219 - 15 Dec 2023
Viewed by 926
Abstract
This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with [...] Read more.
This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers. The average assertiveness was 47%, with GSD Ia and Ib being the best-identified types, while no expert correctly identified GSD IXc. Underage investigation for later manifestations, incomplete clinical description, and complementary analysis, the overvaluation of a specific clinical finding (“false positive”) or the discarding of the diagnosis in the absence of it (“false negative”), as well as the lack of knowledge of the rarest GSD types, may have impacted the accuracy of the assessment. This study emphasized that characteristics considered as determinants in identifying the specific types or subtypes of GSD are not exclusive, thus becoming factors that may have induced the evaluators to misdiagnose. Full article
(This article belongs to the Special Issue Genetic Diversity - Recent Advances and Applications in Inherited Metabolic Diseases)
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10 pages, 401 KiB  
Article
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review
by Michal Hutny, Patryk Lipinski and Aleksandra Jezela-Stanek
Genes 2023, 14(6), 1208; https://doi.org/10.3390/genes14061208 - 31 May 2023
Cited by 1 | Viewed by 1655
Abstract
Congenital disorders of glycosylation (CDGs) are a wide group of genetic diseases characterised by a severe clinical spectrum, consisting of developmental delays, dysmorphisms, and neurological deficits. Mutations in the PIGV gene lead to a disorder called hyperphosphatasia with impaired intellectual development syndrome 1 [...] Read more.
Congenital disorders of glycosylation (CDGs) are a wide group of genetic diseases characterised by a severe clinical spectrum, consisting of developmental delays, dysmorphisms, and neurological deficits. Mutations in the PIGV gene lead to a disorder called hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1), distinct from other CDGs in terms of hyperphosphatemia related to abnormal ALP activity and brachytelephalangy. This article discusses the phenotype of six Polish patients with HPMRS1 with a special focus on behavioural and imaging features, which were not addressed in 26 previously reported cases. The medical records of six patients aged 6 to 22 years were collected and analysed. In all cases, the same PIGV homozygotic mutation (c.1022C>A; p.Ala341Glu) was found, although the patients presented a diverse spectrum of neurological and developmental disorders, concerning in most cases the muscular tonus and general developmental delay. The most prevalent dysmorphic features included hypertelorism, high palate, and finger anomalies, whereas other characteristics present in all previously described cases, such as a short, broad nose and brachytelephalangy, were less frequently observed. Similarly to previous reports, the magnetic resonance (MR) and computed tomography (CT) head scans returned varied results, including physiological and pathological brain images in equal measure, the latter of which consisted of cortical atrophy, delayed myelination, hydrocephalus, and hypoplastic corpus callosum. Each patient exhibited symptoms characteristic of autism spectrum disorders, especially in terms of attention deficits, as well as controlling and expressing emotions. The most common type of sensory processing disorder was over-responsivity. Despite the low prevalence of HPMRS1, the patients reported in the literature presented a rather uniform phenotype, which does not correspond with the one found in each individual of the studied group. Behavioural disorders and sensory impairment require additional care and awareness considering the global developmental delay often observed in these patients. Full article
(This article belongs to the Special Issue Genetic Diversity - Recent Advances and Applications in Inherited Metabolic Diseases)
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Review

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21 pages, 359 KiB  
Review
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders
by Udara D. Senarathne, Neluwa-Liyanage R. Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E. Frye, Cliff Chen and Karolina M. Stepien
Genes 2023, 14(4), 803; https://doi.org/10.3390/genes14040803 - 27 Mar 2023
Cited by 3 | Viewed by 2575
Abstract
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been [...] Read more.
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been described between ASD and inherited metabolic disorders (IMDs). This review describes biochemical, genetic, and clinical approaches to investigating IMDs associated with ASD. The biochemical work-up includes body fluid analysis to confirm general metabolic and/or lysosomal storage diseases, while the advances and applications of genomic testing technology would assist with identifying molecular defects. An IMD is considered likely underlying pathophysiology in ASD patients with suggestive clinical symptoms and multiorgan involvement, of which early recognition and treatment increase their likelihood of achieving optimal care and a better quality of life. Full article
(This article belongs to the Special Issue Genetic Diversity - Recent Advances and Applications in Inherited Metabolic Diseases)
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