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Advances in Craniofacial Genetics
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Advances in Craniofacial Genetics

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

Deadline for manuscript submissions: 25 September 2025 | Viewed by 547

Special Issue Editor

Prof. Dr. Christos Yapijakis

E-Mail Website
Guest Editor
1. University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece
2. Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 115 27 Athens, Greece
Interests: medical genetics; orofacial genetics; craniofacial genetics; neurogenetics; oral cancer; bioethics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Craniofacial genetics has a long past but a short history. At least since Hippocrates, the perceived cranial and facial resemblance between children and their parents was noted as an inherited characteristic. In recent decades, accumulating evidence from biomedical research in humans and in animal models has suggested that craniofacial morphogenesis is multifactorial, both influenced by environmental factors and orchestrated by a multitude of genes. Subtle variations in gene expression and protein function result in a spectrum of combinatorial possibilities and an extensive diversity of craniofacial phenotypes. Furthermore, patients may have isolated craniofacial anomalies or present with a constellation of features suggestive of specific genetic syndromes that require the collaboration of experts in various disciplines. Recent advances in clinical and molecular genetic studies have produced a plethora of DNA sequence variants, and current research deciphering the epigenetic regulation mechanisms and gene–environmental interactions, shedding new light on the developmental processes of normal and abnormal craniofacial morphogenesis.

The aim of this Special Issue of Genes on the topic of the “Advances in Craniofacial Genetics” lies at the crossroads of genetics, craniofacial surgery, neurosurgery, oral maxillofacial surgery, neurology, ophthalmology, otorhinolaryngology, oral medicine, dentistry, developmental pediatrics, dermatology, pathology, and molecular biology, showcasing contributions regarding novel clinical, genetic, and epigenetic research in the exciting fields of craniofacial genetics, orofacial genetics, developmental genetics, and neurogenetics, as well as head and neck cancer genetics. Priority will be mainly given to innovative research works dealing with the following: (i) the genetics (not the clinical aspects) of craniofacial disorders; (ii) evidence of genotype–phenotype causation, (iii) state-of-the art molecular, genetics, and -omics strategies for the identification and exploration of functional aspects of craniofacial causative gene(s); and (iv) the locus and allele heterogeneity of craniofacial disorders.

Dr. Christos Yapijakis
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. 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

  • craniofacial syndromes
  • dysmorphology
  • genetics
  • epigenetics
  • gene–environment interactions
  • animal models
  • therapeutic protocols
  • cranial neural crest
  • cleft lip and palate
  • auditory–vestibular malformations

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Published Papers (1 paper)

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Research

15 pages, 7229 KiB  
Article
Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome
by Galateia Stathori, Eleni Koniari, Dimitrios Vlachakis, Eleni Papanikolaou, George P. Chrousos and Christos Yapijakis
Genes 2025, 16(4), 357; https://doi.org/10.3390/genes16040357 - 21 Mar 2025
Viewed by 436
Abstract
Background: Pathogenic variants within the gene encoding transforming growth factor β (TGF-β) are responsible for Loeys-Dietz syndrome (LDS), a heritable thoracic aortic disease sharing clinical features with Marfan syndrome, including craniofacial and skeletal abnormalities as well as aortic root aneurysms and dissections. In [...] Read more.
Background: Pathogenic variants within the gene encoding transforming growth factor β (TGF-β) are responsible for Loeys-Dietz syndrome (LDS), a heritable thoracic aortic disease sharing clinical features with Marfan syndrome, including craniofacial and skeletal abnormalities as well as aortic root aneurysms and dissections. In contrast to Marfan syndrome patients, who rarely develop aneurysms or dissections beyond the aortic root, LDS patients frequently exhibit vessel aneurysms in locations other than the aortic root. Here, we report the case of a 61-year-old patient who initially presented with marfanoid characteristics and an aortic root aneurysm and was presumed to have Marfan syndrome two decades ago. Later, the patient developed an abdominal aorta aneurysm, necessitating endovascular repair and stent placement. That fact raised doubts regarding the initial diagnosis of Marfan syndrome, and we decided to investigate the genetic cause of the disorder. Methods: Genetic testing was performed using WES analysis and Sanger sequencing. Results: The genetic analysis detected a de novo heterozygous pathogenic variant c.896G>A in exon 5 of the TGFB2 gene, resulting in the amino acid substitution p. Arg299Gln that has devastating destabilizing structural effects on 3D folding of the protein, as demonstrated by the molecular modeling study we performed. This variant is pathogenic for LDS type 4, partially consistent with the patient’s clinical presentation. Conclusions: Our case emphasizes the significance of precise clinical assessment and genetic verification in patients exhibiting marfanoid characteristics. Furthermore, our findings contribute to the understanding of the diverse clinical spectrum associated with this specific pathogenic variant of TGFB2, underscoring the importance of detailed clinical assessment in expanding knowledge of genotype-phenotype correlations. Accurate diagnosis is crucial for tailored and appropriate management of individuals with heritable thoracic aortic diseases. Full article
(This article belongs to the Special Issue Advances in Craniofacial Genetics)
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