دورية أكاديمية
Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant
| العنوان: | Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant |
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| المؤلفون: | Rodrigo Gutierrez‐Quintana, Cathryn Mellersh, Annette Wessmann, Maria Ortega, Jacques Penderis, Samuel Sharpe, Eleanor Freeman, Lynn Stevenson, Louise Burmeister |
| المصدر: | Journal of Veterinary Internal Medicine, Vol 35, Iss 5, Pp 2306-2314 (2021) |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Veterinary medicine |
| مصطلحات موضوعية: | canine, electrodiagnostics, genetics, neurology, peripheral nervous system, Veterinary medicine, SF600-1100 |
| الوصف: | Abstract Background Hereditary sensory and autonomic neuropathies (HSANs) are a group of genetic disorders affecting the peripheral nervous system. Two different associated variants have been identified in dogs: 1 in Border Collies and 1 in Spaniels and Pointers. Objectives Clinically and genetically characterize HSAN in a family of mixed breed dogs. Animals Five 7‐month‐old mixed breed dogs from 2 related litters were presented for evaluation of a 2‐month history of acral mutilation and progressive pelvic limb gait abnormalities. Methods Complete physical, neurological, electrodiagnostic, and histopathological evaluations were performed. Whole genome sequencing of 2 affected dogs (1 from each litter) was used to identify variants that were homozygous or heterozygous in both cases, but wild type in 217 control genomes of 100 breeds. Immunohistochemistry was used to assess protein expression. Results Complete physical, neurological, electrodiagnostic, and histopathological evaluations confirmed a disorder affecting sensory and autonomic nerves. Whole genome sequencing identified a missense variant in the RETREG1 (reticulophagy regulator 1) gene (c.656C > T, p.P219L). All affected dogs were homozygous for the variant, which was not detected in 1193 dogs from different breeds. Immunohistochemistry showed no expression of RETREG1 in the cerebellum of affected dogs. One of the affected dogs lived for 5 years and showed gradual progression of the clinical signs. Conclusions and Clinical Importance We confirmed the diagnosis of HSAN in a family of mixed breed dogs and identified a novel and possibly pathogenic RETREG1 variant. Affected dogs experienced gradual deterioration over several years. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1939-1676 0891-6640 |
| Relation: | https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676 |
| DOI: | 10.1111/jvim.16242 |
| URL الوصول: | https://doaj.org/article/3e04c9c0772e409182f18cc7d36190c6 |
| رقم الأكسشن: | edsdoj.3e04c9c0772e409182f18cc7d36190c6 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 19391676 08916640 |
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| DOI: | 10.1111/jvim.16242 |