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Current Diagnostics for Rare and Ultrarare Diseases
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Current Diagnostics for Rare and Ultrarare 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 (15 May 2024) | Viewed by 677

Special Issue Editor

Dr. Andreas R. Janecke

E-Mail Website
Guest Editor
1. Department of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria
2. Division of Human Genetics, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria
Interests: genome sequencing; pediatric gastroenterology; hepatology; skeletal dysplasia; skeletal disorders; retinal disorders; corneal dystrophies

Special Issue Information

Dear Colleagues,

The majority of an estimated eight thousand rare and ultrarare monogenic disorders have their onset in infancy and childhood. The repertoire of high-throughput genetic testing methods in routine and research is constantly expanding to include optical genomic mapping and short-read and long-read genome sequencing in all pediatric subspecialties. The finding of more than one genetic disease entity in the same patient or within a given family is an increasingly identified phenomenon, often adding to the observed intra- and interfamilial variability of the natural disease course and to the effect of therapeutic interventions. The interpretation of identified variants represents the main task in this field of human genetics. The reporting of single case reports and of case series with detailed clinical findings and accurate genetic variant description is mandatory in order to improve the diagnostic process and management of patients with such rare disorders.

We welcome original research articles, case reports, and reviews addressing this topic, including the reporting of novel gene–disease associations and highly unusual variants and the segregation of one or more disorders in families.

Dr. Andreas R. Janecke
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

  • gene identification
  • disease-causing mutations
  • genotype–phenotype correlations
  • ultrarare disease
  • concurrent diseases
  • pathophysiological mechanisms
  • segregation analysis

Published Papers (2 papers)

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7 pages, 669 KiB  
Case Report
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene
by Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi and Maria Iascone
Genes 2024, 15(6), 654; https://doi.org/10.3390/genes15060654 - 22 May 2024
Viewed by 178
Abstract
Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the CREBBP gene, with an additional 8% linked to the EP300 gene. Given the [...] Read more.
Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the CREBBP gene, with an additional 8% linked to the EP300 gene. Given the close relationship between these two genes and their involvement in epigenomic modulation, RTS is grouped into chromatinopathies. The extensive clinical heterogeneity observed in RTS, coupled with the growing number of disorders involving the epigenetic machinery, poses a challenge to a phenotype-based diagnostic approach for these conditions. Here, we describe the first case of a patient clinically diagnosed with RTS with a CREBBP truncating variant in mosaic form. We also review previously described cases of mosaicism in CREBBP and apply clinical diagnostic guidelines to these patients, confirming the good specificity of the consensus. Nonetheless, these reports raise questions about the potential underdiagnosis of milder cases of RTS. The application of a targeted phenotype-based approach, coupled with high-depth NGS, may enhance the diagnostic yield of whole-exome sequencing (WES) in mild and mosaic conditions. Full article
(This article belongs to the Special Issue Current Diagnostics for Rare and Ultrarare Diseases)
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9 pages, 1558 KiB  
Case Report
An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?
by Graziano Santoro, Mariarosaria Incoronato, Edoardo Spagnoli, Ilaria Gabbiato, Simona Contini, Marta Piovan, Maurizio Ferrari, Cristina Lapucci and Daniela Zuccarello
Genes 2024, 15(6), 650; https://doi.org/10.3390/genes15060650 - 21 May 2024
Viewed by 203
Abstract
To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis [...] Read more.
To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the WAC gene (WW-domain-containing adaptor with coiled coil). In this clinical case report, we report a 5-year-old girl, born from non-consanguineous parents, with a 10p11.22p11.21 microdeletion. She presents clinical features that overlap with other patients described in the literature, such as dysmorphic traits, speech delay, and behavioural abnormalities (hyperactivity), even though the WAC gene is not involved in the microdeletion. Our results are the first to highlight that the deletion described here represents a contiguous gene syndrome that is enough to explain the distinct phenotype but partially overlaps with the previous cases reported in the literature, even though the same genes are not involved. In particular, in this study, we speculate about the role of the WAC gene that seems to be associated with normal motor development. In fact, we found that our patient is the only one described in the literature with a large deletion in the 10p11.22p11.21 region without the involvement of the WAC gene deletion, and, interestingly, the patient did not have motor delay. Full article
(This article belongs to the Special Issue Current Diagnostics for Rare and Ultrarare Diseases)
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