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Keywords = juvenile lethal mutation

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16 pages, 2295 KiB  
Review
Overview of Recent Advances in Canine Parvovirus Research: Current Status and Future Perspectives
by Hongzhuan Zhou, Kaidi Cui, Xia Su, Huanhuan Zhang, Bing Xiao, Songping Li and Bing Yang
Microorganisms 2025, 13(1), 47; https://doi.org/10.3390/microorganisms13010047 - 30 Dec 2024
Cited by 3 | Viewed by 7604
Abstract
Canine parvovirus (CPV-2) was first identified in the late 1970s and has since become one of the most significant infectious agents affecting dogs. CPV-2 causes severe diseases such as hemorrhagic gastroenteritis and myocarditis, posing a major threat to canine health, particularly with a [...] Read more.
Canine parvovirus (CPV-2) was first identified in the late 1970s and has since become one of the most significant infectious agents affecting dogs. CPV-2 causes severe diseases such as hemorrhagic gastroenteritis and myocarditis, posing a major threat to canine health, particularly with a high mortality rate in puppies. It is globally recognized as a highly contagious and lethal pathogen. CPV is prone to rapid mutation, leading to the emergence of new variants. Despite widespread vaccination efforts, CPV remains one of the primary causes of acute gastroenteritis and death in young and juvenile dogs. Furthermore, the detection of CPV in swine populations has introduced additional challenges to its control. This review summarizes the current epidemiological status of CPV, highlighting recent advancements in diagnostic techniques and vaccine development. Additionally, it discusses the latest research on the pathogenesis of the virus and the development of antiviral agent research and proposes prevention and control suggestions for CPV under the One Health concept. In particular, there is a need to enhance surveillance of viral dynamics, accelerate the development of novel vaccines, and deepen the exploration of the underlying pathogenic mechanisms. This review aims to provide a scientific foundation for effective control of CPV and to guide future research directions. Full article
(This article belongs to the Special Issue Advances in Parvovirus Infection of Pets and Waterfowl)
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9 pages, 1697 KiB  
Case Report
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants
by Benjamin Eurich, Catharina Nitsche, Margot Lau, Britta Hanker, Juliane Spiegler and Guido Stichtenoth
Children 2022, 9(6), 797; https://doi.org/10.3390/children9060797 - 28 May 2022
Cited by 1 | Viewed by 1942
Abstract
Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been [...] Read more.
Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood. In this case report, we present a young adult who developed severe progressive respiratory insufficiency as a teenager due to diaphragmatic hypomotility and was diagnosed with LCCS11 following the discovery of compound heterozygous pathogenic variants in GLDN. This case demonstrates the importance of screening for neuromuscular diseases in well-child visits and follow-ups of patients at risk for gross and fine motor function developmental delay. It also underscores the significance of including LCCS11 and other axonopathies in the differential diagnosis of juvenile onset of respiratory insufficiency, highlights that patients with this condition may present to adult practitioners and questions whether the nomenclature of this condition with various phenotypes should be reconsidered due to the stigmatizing term ‘lethal’. Full article
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14 pages, 14639 KiB  
Article
A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep
by Maxime Ben Braiek, Carole Moreno-Romieux, Charlotte Allain, Philippe Bardou, Arnaud Bordes, Frédéric Debat, Cord Drögemüller, Florence Plisson-Petit, David Portes, Julien Sarry, Némuel Tadi, Florent Woloszyn and Stéphane Fabre
Genes 2022, 13(1), 45; https://doi.org/10.3390/genes13010045 - 24 Dec 2021
Cited by 7 | Viewed by 4243
Abstract
We recently demonstrated that the Lacaune deficient homozygous haplotype 6 (LDHH6) potentially hosts a recessive perinatal lethal mutation in Lacaune dairy sheep mapped on OAR3. In the present study, we have analyzed the whole-genome sequences of two Lacaune ram heterozygous carriers of LDHH6. [...] Read more.
We recently demonstrated that the Lacaune deficient homozygous haplotype 6 (LDHH6) potentially hosts a recessive perinatal lethal mutation in Lacaune dairy sheep mapped on OAR3. In the present study, we have analyzed the whole-genome sequences of two Lacaune ram heterozygous carriers of LDHH6. After variant calling and filtering against the variants of 86 non-carrier rams, we have identified a single nucleotide variant (SNV) in the two LDHH6 carriers whose variant allele induced a premature stop codon (p.Glu111*) in the Coiled-Coil Domain Containing 65 (CCDC65) gene. CCDC65 is involved in the assembly of the nexin-dynein regulatory complex for the formation of microtubules in ciliated cells. In order to identify the phenotype in homozygous sheep, we generated at-risk matings (n = 17) between rams and ewes heterozygous for the candidate variant in CCDC65. A total of 16 lambs were born alive with five genotyped as homozygous carriers. The homozygous lambs suffered from respiratory problems, and four of them died within the first month of life. At necropsy, we observed a broad hepatization of lung lobes possibly induced by infectious pneumonia. The management of this lethal recessive allele (frequency of 0.06) through reasoned mating in the Lacaune sheep selection schemes could reduce lamb mortality by 2%. Full article
(This article belongs to the Special Issue Genetics and Breeding of Small Ruminants)
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