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Genetics and Genomics of Heritable Pediatric Disorders
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Genetics and Genomics of Heritable Pediatric Disorders

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

Deadline for manuscript submissions: 20 April 2025 | Viewed by 5742

Special Issue Editors

Prof. Dr. Pawel Gawlinski

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Guest Editor
Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland
Interests: neuromigration disorders; microcephaly; leukodystrophies and hereditary leukoencephalopathies
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Robert Śmigiel

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Guest Editor
Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland
Interests: intellectual disability; dysmorphology; inborn errors of metabolism; developmental delay in children
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The technological advancements in nucleic acid and protein sequencing platforms, as well as in massively parallel sequencing, with corresponding developments in global online analyses and patient data disease databases, enable researchers to identify and examine genetic errors across the genome, transcriptome, and proteome. This technological revolution has generated an unprecedented acceleration in the rate and depth of knowledge gained from studies on inherited human diseases and ensuing pediatric conditions.

The identification of genetic defects and risk factors has increased dramatically in the last decade; however, the precise mechanisms underlying pathophysiology remain elusive for most genetic disorders. Consequently, effective treatments are yet to be established. Identifying specific genetic and physiological contributions to heritable pediatric disorders potentiates early interventions; targeted, more effective treatments; the anticipation of comorbidities; and counseling for parents on prognosis and recurrence risk.

We encourage submissions of unpublished original manuscripts (research articles, reviews, case reports, and communications) with a strong genetic component describing recent advances in all aspects related, but not limited, to the following topics: functional studies on genes or variants, gene expression analyses, rare variant analyses, animal models, iPSCs (induced pluripotent stem cells), non-coding RNAs, clinical and molecular descriptions of new syndromic as well as non-syndromic forms of genetic disorders, clinical and molecular descriptions of congenital defects as well as dysmorphic syndromes in the prenatal and postnatal periods, and genotype–phenotype correlations.

Prof. Dr. Pawel Gawlinski
Prof. Dr. Robert Śmigiel
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

  • human genetics
  • genomics
  • rare diseases
  • pediatric disorders
  • genetics

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Published Papers (3 papers)

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Research

13 pages, 5061 KiB  
Article
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
by Natalia Braun-Walicka, Agnieszka Pluta, Tomasz Wolak, Edyta Maj, Agnieszka Maryniak, Monika Gos, Anna Abramowicz, Aleksandra Landowska, Ewa Obersztyn and Jerzy Bal
Genes 2023, 14(12), 2173; https://doi.org/10.3390/genes14122173 - 3 Dec 2023
Cited by 1 | Viewed by 1561
Abstract
Noonan syndrome (NS) is one of the most common genetic conditions inherited mostly in an autosomal dominant manner with vast heterogeneity in clinical and genetic features. Patients with NS might have speech disturbances, memory and attention deficits, limitations in daily functioning, and decreased [...] Read more.
Noonan syndrome (NS) is one of the most common genetic conditions inherited mostly in an autosomal dominant manner with vast heterogeneity in clinical and genetic features. Patients with NS might have speech disturbances, memory and attention deficits, limitations in daily functioning, and decreased overall intelligence. Here, 34 patients with Noonan syndrome and 23 healthy controls were enrolled in a study involving gray and white matter volume evaluation using voxel-based morphometry (VBM), white matter connectivity measurements using diffusion tensor imaging (DTI), and resting-state functional magnetic resonance imaging (rs-fMRI). Fractional anisotropy (FA) and mean diffusivity (MD) probability distributions were calculated. Cognitive abilities were assessed using the Stanford Binet Intelligence Scales. Reductions in white matter connectivity were detected using DTI in NS patients. The rs-fMRI revealed hyper-connectivity in NS patients between the sensorimotor network and language network and between the sensorimotor network and salience network in comparison to healthy controls. NS patients exhibited decreased verbal and nonverbal IQ compared to healthy controls. The assessment of the microstructural alterations of white matter as well as the resting-state functional connectivity (rsFC) analysis in patients with NS may shed light on the mechanisms responsible for cognitive and neurofunctional impairments. Full article
(This article belongs to the Special Issue Genetics and Genomics of Heritable Pediatric Disorders)
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12 pages, 3545 KiB  
Article
Epigenetic Findings in Twins with Esophageal Atresia
by Michal Błoch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Płoski, Dariusz Patkowski, Pawel Karpiński and Robert Śmigiel
Genes 2023, 14(9), 1822; https://doi.org/10.3390/genes14091822 - 20 Sep 2023
Viewed by 1423
Abstract
Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial [...] Read more.
Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, FGD1, GDI1, MCF2, OCRL, and STARD8). Full article
(This article belongs to the Special Issue Genetics and Genomics of Heritable Pediatric Disorders)
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16 pages, 263 KiB  
Article
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
by Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera and Barbara Steinborn
Genes 2023, 14(5), 972; https://doi.org/10.3390/genes14050972 - 25 Apr 2023
Cited by 3 | Viewed by 2161
Abstract
Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM614213), and autosomal dominant neurodegeneration and spasticity [...] Read more.
Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM614213), and autosomal dominant neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment (NESCAV syndrome), formerly named mental retardation type 9 (MRD9) (OMIM614255). KIF1A variants have also been occasionally linked with progressive encephalopathy with brain atrophy, progressive neurodegeneration, PEHO-like syndrome (progressive encephalopathy with edema, hypsarrhythmia, optic atrophy), and Rett-like syndrome. Materials and Methods: The first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic KIF1A variants were analyzed. All the patients were of Caucasian origin. Five patients were females, and four were males (female-to-male ratio = 1.25). The age of onset of the disease ranged from 6 weeks to 2 years. Results: Exome sequencing identified three novel variants. Variant c.442G>A was described in the ClinVar database as likely pathogenic. The other two novel variants, c.609G>C; p.(Arg203Ser) and c.218T>G, p.(Val73Gly), were not recorded in ClinVar. Conclusions: The authors underlined the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily. Full article
(This article belongs to the Special Issue Genetics and Genomics of Heritable Pediatric Disorders)
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