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Genes
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Genetic and Phenotypic Correlation: Gene–Disease Validation Series II
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Genetic and Phenotypic Correlation: Gene–Disease Validation Series II

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 July 2024 | Viewed by 384

Special Issue Editors

Dr. Yu An

E-Mail Website
Guest Editor
Human Phenome Institute, Fudan University, Shanghai, China
Interests: genetics and genomics; developmental disorder; neurodevelopmental disorder; genetic counseling; translational medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Tianyun Wang

E-Mail Website
Guest Editor
Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China
Interests: genetics; genomics; autism; neurodevelopmental disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Yiran Guo

E-Mail Website
Guest Editor
Center for Data Driven Discovery in Biomedicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Interests: bioinformatics; rare/common diseases; human genomics/genetics; medical genomics/genetics; clinical genomics/genetics; cancer genomics/genetics
Dr. Junyu Zhang

E-Mail Website
Guest Editor
Department of Reproductive Genetics, Obstetrics and Gynecology Hospital of Tongji University, 2699 West Gaoke Road, Shanghai 201204, China
Interests: reproductive genetics; gene disease validity; variant interpretation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

With the increasing use of genomic sequencing technology, a significant number of genes contributing to Mendelian disorders can be rapidly identified. However, the clinical utility of this technology bottlenecks at variant interpretation. Substantial gaps in the knowledge base necessitate more information on gene disease validation, especially genetic or experimental evidence on variants of known genes, which can clarify the correlation between genotype and phenotype.

The “one-gene-one-disease” paradigm has been challenged by multiple disease traits caused by one gene or one locus in one gene. At times, face lumping and the splitting conundrum are necessary to evaluate the validity of a gene–disease relationship. However, variable expressivity and the incomplete penetrance of recurrent variants make genetic diagnosis challenging. More genetic and experimental evidence could enhance our understanding of the role of genetic etiology in diseases; filling this research gap constitutes the genetic basis for improving precision medicine.

This Special Issue welcomes a variety of research papers, including systematic reviews of the genotype–phenotype correlation, detailed studies on genetic and experimental evidence of gene alteration, and novel insights into the genetic mechanism of rare genetic diseases, involving both the modifier factor discovery and expanded clinical phenotype of genetic variants.

Dr. Yu An
Dr. Tianyun Wang
Dr. Yiran Guo
Dr. Junyu Zhang
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 disorder
  • neurodevelopment
  • birth defect
  • genetic disorder
  • gene discovery
  • next-generation sequencing (NGS)
  • whole-exome/genome sequencing
  • molecular biology
  • animal modeling
  • genotype
  • phenotype
  • gene curation
  • pathogenesis
  • modifier
  • variant interpretation

Published Papers (1 paper)

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Research

16 pages, 1858 KiB  
Article
Genotype–Phenotype Correlations in Alport Syndrome—A Single-Center Experience
by Ștefan Nicolaie Lujinschi, Bogdan Marian Sorohan, Bogdan Obrișcă, Alexandra Vrabie, Gabriela Lupușoru, Camelia Achim, Andreea Gabriella Andronesi, Andreea Covic and Gener Ismail
Genes 2024, 15(5), 593; https://doi.org/10.3390/genes15050593 - 7 May 2024
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Abstract
Background: Alport syndrome (AS) is a common and heterogeneous genetic kidney disease, that often leads to end-stage kidney disease (ESKD). Methods: This is a single-center, retrospective study that included 36 adults with type IV collagen (COL4) mutations. Our main scope was to describe [...] Read more.
Background: Alport syndrome (AS) is a common and heterogeneous genetic kidney disease, that often leads to end-stage kidney disease (ESKD). Methods: This is a single-center, retrospective study that included 36 adults with type IV collagen (COL4) mutations. Our main scope was to describe how genetic features influence renal survival. Results: A total of 24 different mutations were identified, of which eight had not been previously described. Mutations affecting each of the type IV collagen α chains were equally prevalent (33.3%). Most of the patients had pathogenic variants (61.1%). Most patients had a family history of kidney disease (71%). The most prevalent clinical picture was nephritic syndrome (64%). One-third of the subjects had extrarenal manifestations, 41.6% of patients had ESKD at referral, and another 8.3% developed ESKD during follow-up. The median renal survival was 42 years (95% CI, 29.98–54.01). The COL4A4 group displayed better renal survival than the COL4A3 group (p = 0.027). Patients with missense variants had higher renal survival (p = 0.023). Hearing loss was associated with lower renal survival (p < 0.001). Conclusions: Patients with COL4A4 variants and those with missense mutations had significantly better renal survival, whereas those with COL4A3 variants and those with hearing loss had worse prognoses. Full article
(This article belongs to the Special Issue Genetic and Phenotypic Correlation: Gene–Disease Validation Series II)
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