Special Issue "22q11.2 Deletion Syndrome"

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

Deadline for manuscript submissions: 24 September 2022.

Special Issue Editors

Dr. Beata Nowakowska
E-Mail Website
Guest Editor
Instytut Matki I Dziecka, 01-211 Warsaw, Poland
Prof. Dr. Donna M. McDonald-McGinn
E-Mail Website
Guest Editor
The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA

Special Issue Information

Dear Colleagues,

The 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder, with the prevalence of 1 in 2000 to 1 in 4000 livebirths. Despite the well-characterized primary cause of the disease, the variability of the clinical picture is extremely high. More than 180 clinical features, both physical and behavioral, have been described, but no single clinical feature occurs in 100% of cases. Phenotypic variability is a major source of misdiagnosis in patients with 22q11 deletion. Additionally, despite its frequency, this syndrome is still little known among specialists.

Recent extensive research studies have shown the genetic complexity of the syndrome and the influence of other genetic modifiers, apart from deletion of the 22q11 region, on the phenotypic diversity of patients.

This Special Issue will be a collection of both reviews and original research manuscripts, providing an overview of current knowledge on different aspects of diagnostics, treatment, and management of children and adults with the 22q11 deletion syndrome.

Dr. Beata Nowakowska
Prof. Donna M. McDonald-McGinn
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 papers will be 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 2000 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

  • 22q11 deletion syndrome
  • Recurrent deletion
  • Variant screening
  • Genetic modifiers
  • Congenital heart anomalies
  • Psychiatric illness
  • Immune deficiency
  • Next-generation sequencing

Published Papers (1 paper)

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Research

Article
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome
Genes 2021, 12(1), 92; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12010092 - 13 Jan 2021
Viewed by 806
Abstract
Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted region contains nuclear encoded mitochondrial genes, and since mitochondrial function [...] Read more.
Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted region contains nuclear encoded mitochondrial genes, and since mitochondrial function is critical during development, we hypothesized that changes in the mitochondrial DNA (mtDNA) could be involved in the intrafamilial variability of CHD and PA in cases of maternally inherited 22q11.2DS. To investigate this, we studied the transmission of heteroplasmic mtDNA alleles in seventeen phenotypically concordant and discordant mother-offspring 22q11.2DS pairs. We sequenced their mtDNA and identified 26 heteroplasmic variants at >1% frequency, representing 18 transmissions. The median allele frequency change between a mother and her child was twice as much, with a wider distribution range, in PA discordant pairs, p-value = 0.039 (permutation test, 11 concordant vs. 7 discordant variants), but not in CHD discordant pairs, p-value = 0.441 (9 vs. 9). Only the variant m.9507T>C was considered to be pathogenic, but it was unrelated to the structural phenotypes. Our study is novel, yet our results are not consistent with mtDNA variation contributing to PA or CHD in 22q11.2DS. Larger cohorts and additional factors should be considered moving forward. Full article
(This article belongs to the Special Issue 22q11.2 Deletion Syndrome)
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