Special Issue "New Insights into Genetic Risk Assessment in Congenital Diseases"

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

Deadline for manuscript submissions: 20 March 2022.

Special Issue Editors

Dr. A. J. Agopian
E-Mail Website
Guest Editor
Health Science Center at Houston, School of Public Health, University of Texas, Houston, TX, USA
Interests: birth defects; epidemiology; GWAS
Special Issues and Collections in MDPI journals
Dr. Jennifer E. Posey
E-Mail Website
Guest Editor
Adult Genetics Clinic, Baylor College of Medicine, Houston, TX, USA
Interests: rare disease; molecular genomics
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Congenital diseases are conditions with a partial or complete prenatal origin. Common examples include both phenotypes that are present at birth (e.g., congenital malformations, preterm birth) or those that manifest later (e.g., autism), and a congenital component of risk for a range of diseases is becoming increasingly recognized, even among some diseases that have not been historically considered as having a congenital basis. Collectively, congenital diseases have a tremendous impact on infant and childhood mortality and morbidity, though, given their heterogeneity, it is difficult to estimate their cumulative impact. These conditions include genetic syndromes and chromosome abnormalities, many of which have a well-defined genetic etiology, as well as non-syndromic conditions, many of which are suspected to have a complex etiology involving multiple genes and environmental factors, as well as both maternal and inherited genetic effects. In this Special Issue, we invite papers related to the elucidation of the genetic and genomic etiologies of congenital diseases and the molecular diagnostic evaluation of such conditions among humans. Submissions related to epidemiological and medical genetics research are encouraged. New insights into the genetic risk involved in congenital diseases are needed in order to work towards better understanding the determinants of these conditions.

Dr. A. J. Agopian
Dr. Jennifer E. Posey
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

  • congenital disorders
  • birth defects
  • autism
  • medical genetics
  • molecular diagnoses
  • genetic and genomic disorders

Published Papers (1 paper)

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Research

Article
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations
Genes 2021, 12(10), 1615; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101615 - 14 Oct 2021
Viewed by 294
Abstract
Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis. Biallelic [...] Read more.
Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis. Biallelic mutations in the NADSYN1 gene have been reported to be causative of congenital organ defects known as VCRL syndrome (Vertebral-Cardiac-Renal-Limb syndrome). Here, we analyzed the genetic variants in NADSYN1 in an exome-sequenced cohort consisting of patients with congenital vertebral malformations (CVMs). A total number of eight variants in NADSYN1, including two truncating variants and six missense variants, were identified in nine unrelated patients. All enrolled patients presented multiple organ defects, with the involvement of either the heart, kidney, limbs, or liver, as well as intraspinal deformities. An in vitro assay using COS-7 cells demonstrated either significantly reduced protein levels or disrupted enzymatic activity of the identified variants. Our findings demonstrated that functional variants in NADSYN1 were involved in the complex genetic etiology of CVMs and provided further evidence for the causative NADSYN1 variants in congenital NAD Deficiency Disorder. Full article
(This article belongs to the Special Issue New Insights into Genetic Risk Assessment in Congenital Diseases)
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