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Genetic Heterogeneity and Molecular Mechanism of Neurodevelopmental Disorders
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Genetic Heterogeneity and Molecular Mechanism of Neurodevelopmental Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 20 June 2024 | Viewed by 953

Special Issue Editor

Dr. Hyung-Goo Kim

E-Mail Website
Guest Editor
1. Neurological Disorders Research Center, Qatar Biomedical Research Institute, Doha, Qatar
2. Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA 30912, USA
Interests: autism; intellectual disability; human molecular genetics; whole exome sequencing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to announce a Special Issue of our journal focused on the genetics and genomics of neurodevelopmental disorders. It aims to showcase the latest advancements in the field of molecular genetics and functional studies on neurodevelopmental disorders.

Recent progress in NGS technologies, including exome sequencing (ES) and genome sequencing (GS), optical genome mapping combined with targeted sequencing panels, and chromosomal microarray analyses, has significantly improved our understanding of neurodevelopmental disorders. These techniques have identified specific genetic alterations, providing insights into underlying molecular mechanisms and enabling accurate diagnoses, personalized treatments, and improved prognoses.

Cell-based assay and animal models, such as mice, zebrafish, and fruit flies, have been instrumental in studying the functional consequences of genetic variations in autism, intellectual disability, epilepsy, and ADHD. Manipulating genes in these models helps uncover the effects of mutations on brain development and behavior, offering valuable insights into affected pathways and potential therapeutic targets.

We encourage submissions from researchers in underrepresented regions, including Asian, African, Latin American, and Middle Eastern countries, to enrich the available genomic data and foster a more diverse understanding of neurodevelopmental disorders.

By sharing the latest advancements and research findings in this Special Issue, we aim to advance our knowledge of the genetics and genomics of neurodevelopmental disorders. Submit your contributions and join us in making this Special Issue a success.

Dr. Hyung-Goo Kim
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • neurodevelopmental disorders
  • autism
  • intellectual disability
  • epilepsy
  • ADHD
  • behavioral disorder
  • next-generation sequencing
  • exome sequencing
  • genome sequencing
  • mouse
  • zebrafish
  • fruit fly
  • functional study
  • molecular diagnosis
  • genetics
  • genomics

Published Papers (1 paper)

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Research

13 pages, 1355 KiB  
Article
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome
by Ji Yoon Han, Yong Gon Cho, Dae Sun Jo and Joonhong Park
Int. J. Mol. Sci. 2024, 25(1), 253; https://doi.org/10.3390/ijms25010253 - 23 Dec 2023
Viewed by 657
Abstract
16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental course and discordant clinical phenotypes observed within and between individuals [...] Read more.
16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental course and discordant clinical phenotypes observed within and between individuals with identical 16p11.2 microdeletions. An analysis with the CytoScan Dx Assay was conducted on a GeneChip System 3000Dx, and the sample signals were then compared to a reference set using the Chromosome Analysis Suite software version 3.1. Ten patients from six separate families were identified with 16p11.2 microdeletions. Nine breakpoints (BPs) 4-5 and one BP2-5 of the 16p11.2 microdeletion were identified. All patients with 16p11.2 microdeletions exhibited developmental delay and/or intellectual disability. Sixty percent of patients presented with neonatal hypotonia, but muscle weakness improved with age. Benign infantile epilepsy manifested between the ages of 7–10 months (a median of 8 months) in six patients (60%). Vertebral dysplasia was observed in two patients (20%), and mild scoliosis was noted in three patients. Sixty percent of patients were overweight. We present six unrelated Korean families, among which identical 16p11.2 microdeletions resulted in diverse developmental trajectories and discordant phenotypes. The clinical variability and incomplete penetrance observed in individuals with 16p11.2 microdeletions remain unclear, posing challenges to accurate clinical interpretation and diagnosis. Full article
(This article belongs to the Special Issue Genetic Heterogeneity and Molecular Mechanism of Neurodevelopmental Disorders)
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