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Keywords = LEOPARD syndrome

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13 pages, 942 KiB  
Article
Spectrum of Mutations in PTPN11 in Russian Cohort
by Anna Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov and Oksana Ryzhkova
Genes 2024, 15(3), 345; https://doi.org/10.3390/genes15030345 - 7 Mar 2024
Cited by 1 | Viewed by 2163
Abstract
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in [...] Read more.
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the PTPN11 gene. We analyzed 456 unrelated probands using a gene panel NGS, and in 206 cases, the cause of the disease was identified. Approximately half of the cases (107) were caused by variants in the PTPN11 gene, including three previously undescribed variants, one of which was classified as VOUS, and the other two as LP causative complex alleles. Frequent variants of the PTPN11 gene characteristics for Russian patients were identified, accounting for more than 38% (c.922A>G p.Asn308Asp, c.417G>C p.Glu139Asp, c.1403C>T p.Thr468Met) of all cases with mutations in the PTPN11 gene. A comparative characterization of frequent variants of the PTPN11 gene in different populations is shown. The most common features of Noonan syndrome in the studied sample were facial dysmorphisms and cardiovascular system abnormalities. A lower representation of patients with growth delay was observed compared to previously described samples. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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9 pages, 1564 KiB  
Article
Increased Risk of Infection with Severe Fever with Thrombocytopenia Virus among Animal Populations on Tsushima Island, Japan, Including an Endangered Species, Tsushima Leopard Cats
by Aya Matsuu, Kandai Doi, Keita Ishijima, Kango Tatemoto, Yushi Koshida, Ayako Yoshida, Kohei Kiname, Akio Iwashita, Shin-ichi Hayama and Ken Maeda
Viruses 2022, 14(12), 2631; https://doi.org/10.3390/v14122631 - 25 Nov 2022
Cited by 2 | Viewed by 2570
Abstract
To investigate the seroprevalence of severe fever with thrombocytopenia syndrome (SFTS) among wild and companion animals on Tsushima Island, Japan, SFTS virus (SFTSV)-specific ELISA and virus-neutralizing tests were conducted on 50 wild boars, 71 Sika deer, 84 dogs, 323 domestic cats, and 6 [...] Read more.
To investigate the seroprevalence of severe fever with thrombocytopenia syndrome (SFTS) among wild and companion animals on Tsushima Island, Japan, SFTS virus (SFTSV)-specific ELISA and virus-neutralizing tests were conducted on 50 wild boars, 71 Sika deer, 84 dogs, 323 domestic cats, and 6 Tsushima leopard cats. In total, 1 wild boar (1.8%), 2 dogs (2.4%), 7 domestic cats (2.2%), and 1 Tsushima leopard cat (16.7%) were positive for anti-SFTSV antibodies. Among the 11 positive animals, 10 were collected after 2019, and all were found on the southern part of the island. SFTSV, thus far, seems to be circulating within a limited area of Tsushima Island. To protect humans and animals, including endangered Tsushima leopard cats, from SFTSV infection, countermeasures are needed to prevent the spread of SFTSV on Tsushima Island. Full article
(This article belongs to the Special Issue Severe Fever with Thrombocytopenia Syndrome Virus 2022)
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19 pages, 3654 KiB  
Article
Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome
by Jared A. Jaffey, Garrett Bullock, Juyuan Guo, Tendai Mhlanga-Mutangadura, Dennis P. O’Brien, Joan R. Coates, Rochelle Morrissey, Robert Hutchison, Kevin S. Donnelly, Leah A. Cohn, Martin L. Katz and Gary S. Johnson
Genes 2022, 13(11), 2158; https://doi.org/10.3390/genes13112158 - 19 Nov 2022
Cited by 8 | Viewed by 3804
Abstract
Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers–Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility and caused by biallelic ADAMTS2 mutations. We report two novel, ADAMTS2 variants in DNA [...] Read more.
Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers–Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility and caused by biallelic ADAMTS2 mutations. We report two novel, ADAMTS2 variants in DNA from EDS-affected dogs. Separate whole-genome sequences from a Pit Bull Terrier and an Alapaha Blue Blood Bulldog each contained a rare, homozygous variant (11:2280117delC, CanFam3.1), predicted to produce a frameshift in the transcript from the first coding ADAMTS2 exon (c.10delC) and a severely truncated protein product, p.(Pro4ArgfsTer175). The clinical features of these dogs and 4 others with the same homozygous deletion included multifocal wounds, atrophic scars, joint hypermobility, narrowed palpebral fissures, skin hyperextensibility, and joint-associated swellings. Due to severe skin fragility, the owners of all 6 dogs elected euthanasia before the dogs reached 13 weeks of age. Cross sections of collagen fibrils in post-mortem dermal tissues from 2 of these dogs showed hieroglyphic-like figures similar to those from cases of severe dermatosparaxis in other species. The whole-genome sequence from an adult Catahoula Leopard Dog contained a homozygous ADAMTS2 missense mutation, [11:2491238G>A; p.(Arg966His)]. This dog exhibited multifocal wounds, atrophic scars, and joint hypermobility, but has survived for at least 9 years. This report expands the spectrum of clinical features of the canine dermatosparactic subtype of EDS and illustrates the potential utility of subclassifying canine EDS by the identity of gene harboring the causal variant. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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24 pages, 11115 KiB  
Review
Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders
by Anastasia Balta, Alexandr Ceasovschih, Victorița Șorodoc, Kyriakos Dimitriadis, Sara Güzel, Cătălina Lionte, Cristian Stătescu, Radu Andy Sascău, Emmanouil Mantzouranis, Athanasios Sakalidis, Panayotis K. Vlachakis, Panagiotis Tsioufis, Athanasios Kordalis, Eleftherios Tsiamis, Konstantinos Tsioufis and Laurențiu Șorodoc
J. Pers. Med. 2022, 12(11), 1754; https://doi.org/10.3390/jpm12111754 - 22 Oct 2022
Cited by 7 | Viewed by 14198
Abstract
Electrocardiogram (ECG) still remains a very useful diagnostic method in modern cardiology. Its broad availability, noninvasiveness and good sensitivity explain why it plays a capital role in the very beginning of the process of diagnosis for every patient, with or without cardiac-related complaints. [...] Read more.
Electrocardiogram (ECG) still remains a very useful diagnostic method in modern cardiology. Its broad availability, noninvasiveness and good sensitivity explain why it plays a capital role in the very beginning of the process of diagnosis for every patient, with or without cardiac-related complaints. For the practitioner, good training in ECG interpretation is mandatory. Sometimes, the ECG trace reveals particular aspects that may cause confusion and complicate decision-making. In this article, we present several less common situations underlying the general context and ECG features. The syndromes studied have a high pathological significance and may range from acute emergencies that call for a rapid therapeutical response to chronic syndromes that require prolonged observation, monitoring and risk stratification. Full article
(This article belongs to the Section Personalized Critical Care)
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5 pages, 3757 KiB  
Case Report
Rare Case of Bilateral Diffuse Uveal Melanocytic Proliferation with Dermal and Mucosal Hyperpigmentations
by Michelle Prasuhn, Nathalie Rommel, Vinodh Kakkassery, Salvatore Grisanti, Mahdy Ranjbar and Felix Rommel
Diagnostics 2021, 11(11), 2052; https://doi.org/10.3390/diagnostics11112052 - 5 Nov 2021
Viewed by 1867
Abstract
Purpose: The demonstration of a rare case of bilateral diffuse uveal melanocytic proliferation (BDUMP) due to a lung carcinoma with unusual dermal lesions. Case description: A 76-year-old man with painless bilateral vision loss revealed leopard or giraffe spot chorioretinopathy and bilateral serous retinal [...] Read more.
Purpose: The demonstration of a rare case of bilateral diffuse uveal melanocytic proliferation (BDUMP) due to a lung carcinoma with unusual dermal lesions. Case description: A 76-year-old man with painless bilateral vision loss revealed leopard or giraffe spot chorioretinopathy and bilateral serous retinal detachment. Ultrasound biomicroscopy revealed uveal swelling expanding into the anterior chamber angle. Dermal and mucosal lesions were present on the lip, breast, groin, scrotum, and penis. Screening analyses revealed a non-small cell lung carcinoma. Conclusions: The diagnosis of BDUMP, a rare paraneoplastic syndrome, was made. The ophthalmological diagnosis led to screening investigations and revealed the underlying malignant disease. Uncommonly, multiple dermal and mucosal lesions could be detected and were analyzed histopathologically. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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21 pages, 8456 KiB  
Article
P0-Related Protein Accelerates Human Mesenchymal Stromal Cell Migration by Modulating VLA-5 Interactions with Fibronectin
by Maria G. Roubelakis, Grigorios Tsaknakis, Feng-Juan Lyu, Ourania Trohatou, Andrew C. W. Zannettino and Suzanne M. Watt
Cells 2020, 9(5), 1100; https://doi.org/10.3390/cells9051100 - 29 Apr 2020
Cited by 7 | Viewed by 3665
Abstract
P0-related protein (PZR), a Noonan and LEOPARD syndrome target, is a member of the transmembrane Immunoglobulin superfamily. Its cytoplasmic tail contains two immune-receptor tyrosine-based inhibitory motifs (ITIMs), implicated in adhesion-dependent signaling and regulating cell adhesion and motility. PZR promotes cell migration [...] Read more.
P0-related protein (PZR), a Noonan and LEOPARD syndrome target, is a member of the transmembrane Immunoglobulin superfamily. Its cytoplasmic tail contains two immune-receptor tyrosine-based inhibitory motifs (ITIMs), implicated in adhesion-dependent signaling and regulating cell adhesion and motility. PZR promotes cell migration on the extracellular matrix (ECM) molecule, fibronectin, by interacting with SHP-2 (Src homology-2 domain-containing protein tyrosine phosphatase-2), a molecule essential for skeletal development and often mutated in Noonan and LEOPARD syndrome patients sharing overlapping musculoskeletal abnormalities and cardiac defects. To further explore the role of PZR, we assessed the expression of PZR and its ITIM-less isoform, PZRb, in human bone marrow mesenchymal stromal cells (hBM MSC), and its ability to facilitate adhesion to and spreading and migration on various ECM molecules. Furthermore, using siRNA knockdown, confocal microscopy, and immunoprecipitation assays, we assessed PZR and PZRb interactions with β1 integrins. PZR was the predominant isoform in hBM MSC. Migrating hBM MSCs interacted most effectively with fibronectin and required the association of PZR, but not PZRb, with the integrin, VLA-5(α5β1), leading to modulation of focal adhesion kinase phosphorylation and vinculin levels. This raises the possibility that dysregulation of PZR function may modify hBM MSC migratory behavior, potentially contributing to skeletal abnormalities. Full article
(This article belongs to the Special Issue The Role of Integrins in Health and Disease)
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