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New Insights into Genetic Risk Assessment in Congenital Diseases
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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: closed (20 March 2022) | Viewed by 10770

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, Collections and Topics 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, Collections and Topics 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 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

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

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Published Papers (3 papers)

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Research

16 pages, 1902 KiB  
Article
Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis
by Cristina M. Justice, Anthony M. Musolf, Araceli Cuellar, Wanda Lattanzi, Emil Simeonov, Radka Kaneva, Justin Paschall, Michael Cunningham, Andrew O. M. Wilkie, Alexander F. Wilson, Paul A. Romitti and Simeon A. Boyadjiev
Genes 2022, 13(5), 816; https://doi.org/10.3390/genes13050816 - 3 May 2022
Cited by 4 | Viewed by 1980
Abstract
Craniosynostosis (CS) is a major birth defect in which one or more skull sutures fuse prematurely. We previously performed a genome-wide association study (GWAS) for sagittal non-syndromic CS (sNCS), identifying associations downstream from BMP2 on 20p12.3 and intronic to BBS9 on 7p14.3; analyses [...] Read more.
Craniosynostosis (CS) is a major birth defect in which one or more skull sutures fuse prematurely. We previously performed a genome-wide association study (GWAS) for sagittal non-syndromic CS (sNCS), identifying associations downstream from BMP2 on 20p12.3 and intronic to BBS9 on 7p14.3; analyses of imputed variants in DLG1 on 3q29 were also genome-wide significant. We followed this work with a GWAS for metopic non-syndromic NCS (mNCS), discovering a significant association intronic to BMP7 on 20q13.31. In the current study, we sequenced the associated regions on 3q29, 7p14.3, and 20p12.3, including two candidate genes (BMP2 and BMPER) near some of these regions in 83 sNCS child-parent trios, and sequenced regions on 7p14.3 and 20q13.2-q13.32 in 80 mNCS child-parent trios. These child-parent trios were selected from the original GWAS cohorts if the probands carried at least one copy of the top associated GWAS variant (rs1884302 C allele for sNCS; rs6127972 T allele for mNCS). Many of the variants sequenced in these targeted regions are strongly predicted to be within binding sites for transcription factors involved in craniofacial development or bone morphogenesis. Variants enriched in more than one trio and predicted to be damaging to gene function are prioritized for functional studies. Full article
(This article belongs to the Special Issue New Insights into Genetic Risk Assessment in Congenital Diseases)
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26 pages, 2192 KiB  
Article
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies
by Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak, Marta Kędzior, Barbara Wiśniowiecka-Kowalnik, Marta Deperas, Justyna Domaradzka, Alicja Łuszczek, Daria Dutkiewicz, Agata Kozar, Dominika Grad, Magdalena Niemiec, Kamila Ziemkiewicz, Róża Magdziak, Natalia Braun-Walicka, Artur Barczyk, Maciej Geremek, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Krystyna Jakubów-Durska, Marzena Dębska, Anna Kucińska-Chahwan, Szymon Kozłowski, Boyana Mikulska, Tadeusz Issat, Tomasz Roszkowski, Agnieszka Nawara-Baran, Agata Runge, Anna Jakubiuk-Tomaszuk, Anna Kruczek, Ewa Kostyk, Grzegorz Pietras, Janusz Limon, Jerzy Zwoliński, Karolina Ochman, Tomasz Szajner, Piotr Węgrzyn, Mirosław Wielgoś, Maria Sąsiadek, Ewa Obersztyn and Beata Anna Nowakowskaadd Show full author list remove Hide full author list
Genes 2022, 13(4), 690; https://doi.org/10.3390/genes13040690 - 14 Apr 2022
Cited by 5 | Viewed by 2616
Abstract
The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the [...] Read more.
The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.2% (2010/7400), including 71.2% (1431/2010) of numerical aberrations and 28.8% (579/2010) of structural aberrations. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 6.8% (505/7400) and 0.7% (57/7400) for variants of unknown clinical significance. The detection rate of clinically significant submicroscopic CNVs was 7.9% (334/4204) for fetuses with structural anomalies, 5.4% (18/336) in AMA, 3.1% (22/713) in the group of abnormal serum screening and 6.1% (131/2147) in other indications. Using the aCGH method, it was possible to assess the frequency of pathogenic chromosomal aberrations, of likely pathogenic and of uncertain clinical significance, in the groups of cases with different indications for an invasive test. Full article
(This article belongs to the Special Issue New Insights into Genetic Risk Assessment in Congenital Diseases)
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11 pages, 8550 KiB  
Article
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations
by Jiachen Lin, Lina Zhao, Sen Zhao, Shengjie Li, Zhengye Zhao, Zefu Chen, Zhifa Zheng, Jiashen Shao, Yuchen Niu, Xiaoxin Li, Jianguo Terry Zhang, Zhihong Wu and Nan Wu
Genes 2021, 12(10), 1615; https://doi.org/10.3390/genes12101615 - 14 Oct 2021
Cited by 10 | Viewed by 5446
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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