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Genetics of Dee and Neurocutaneous Syndromes
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Genetics of Dee and Neurocutaneous Syndromes

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 April 2025) | Viewed by 848

Special Issue Editors

Dr. Alessandro Orsini

E-Mail Website
Guest Editor
Maternal and Child Department, University Hospital of Pisa, 56126 Pisa, PI, Italy
Interests: epilepsy; neurological diseases; neuromuscular disorders; genetics
Special Issues, Collections and Topics in MDPI journals
Dr. Andrea Santangelo

E-Mail Website
Guest Editor
1. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
2. Pediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy
Interests: neurology; pediatrics; headache; migraine; neurofibromatosis; phakomatoses; ketogenic; inflammation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Recent advancements in genetics, molecular biology, and neurobiology have significantly deepened our understanding of both developmental and epileptic encephalopathies (DEEs) and neurocutaneous syndromes. In DEEs, the discovery of new gene mutations has improved diagnostic precision and opened the door to targeted therapeutic approaches. Similarly, progress in understanding the molecular mechanisms underlying neurocutaneous syndromes has led to new treatment possibilities, such as MEK and mTOR inhibition. The development of next-generation sequencing technologies, coupled with advances in bioinformatics and artificial intelligence, has greatly enhanced our ability to identify genetic causes, enabling more personalized and earlier interventions.

We you to contribute to our Special Issue, titled "Genetics of Dee and Neurocutaneous Syndromes".

We welcome original research articles and comprehensive reviews that highlight these recent developments and offer new insights into the diagnosis, treatment, and pathophysiology of these complex genetic disorders.

We look forward to receiving your valuable contributions.

Dr. Alessandro Orsini
Dr. Andrea Santangelo
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

  • developmental and epileptic encephalopathy (DEE)
  • neurocutaneous syndrome
  • phakomatoses
  • epilepsy
  • neurofibromatosis (NF)
  • tuberous sclerosis (TSC)
  • genetics

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Published Papers (1 paper)

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10 pages, 6304 KiB  
Case Report
Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations
by Lorenzo Perilli, Simona Negro, Samanta Carbone, Michele Minerva, Maria Rosaria Curcio, Federica Lotti, Maria Antonietta Mencarelli, Francesca Ariani, Alessandra Renieri, Barbara Tomasini and Salvatore Grosso
Genes 2025, 16(3), 271; https://doi.org/10.3390/genes16030271 - 25 Feb 2025
Viewed by 641
Abstract
Background/Objectives: Ischemic arterial stroke (AIS) is a cerebrovascular event that can occur acutely within the first hours or days of life, presenting as a neurological emergency. To date, clearly defined genetic risk factors for AIS have not been established, although certain genes involved [...] Read more.
Background/Objectives: Ischemic arterial stroke (AIS) is a cerebrovascular event that can occur acutely within the first hours or days of life, presenting as a neurological emergency. To date, clearly defined genetic risk factors for AIS have not been established, although certain genes involved in cerebrovascular regulation mechanisms are suspected to play a role. The Interferon Regulatory Factor 6 (IRF6) gene is a transcription factor involved in craniofacial and epidermal development. Recently, pathogenic variants of IRF6 have been implicated in the cytoprotective pathway of ischemic cerebrovascular disease. The aim of this manuscript is to further support the already-reported association between IRF6 and AIS. Materials and Methods: Genetic counseling and exome sequencing analysis were conducted for diagnostic purposes. Results: We report the case of a female newborn with palatoschisis, cleft palate, sensorineural deafness, facial dysmorphisms, and cutaneous defects who suffered an ischemic stroke in the territory of the left middle cerebral artery on day 1 of life. Family and pregnancy histories revealed no identifiable risk factors, and coagulation studies were normal. Exome sequencing identified a de novo c.1124T>C (p.Phe375Ser) variant in the IRF6 gene. The child developed right spastic hemiplegia and began motor rehabilitation therapy. Recently, a genome-wide association study (GWAS) using m6A-SNPs identified a statistical association between AIS and a single nucleotide polymorphism (SNP) that influences the expression of the IRF6 gene as an expression quantitative trait locus (eQTL). Conclusions: To our knowledge, this is the first report of neonatal ischemic stroke in a child carrying a de novo IRF6 pathogenic variant, further supporting its potential role as a genetic factor influencing cerebrovascular events. Further studies are needed to elucidate the precise relationship between IRF6 and AIS. Full article
(This article belongs to the Special Issue Genetics of Dee and Neurocutaneous Syndromes)
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