Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease



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Andrino García, Sandra and Lorenzo, Valentina and Dunner, Susana and Contreras Alcaide, Elisabeth and Cañón Ferreras, Javier and Sevane, Natalia (2022) Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease. Animals, 12 (19). p. 2622. ISSN 2076-2615

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Syringohydromyelia (SHM) is a neurological disorder characterized by the appearance of fluid-containing cavities within the spinal cord. Although SHM is thought to be under multigenic control, the molecular basis of this disease remains poorly defined. A genome-wide association study (GWAS) was carried out comparing the whole genome sequences (WGS) from 12 dogs with SHM and 2 panels of 26 dogs (either older than 5 years and showing the absence of SHM or belonging to breeds not susceptible to SHM) to identify candidate genes associated with the development of SHM. Seven candidate genes were identified. Of these, five genes were determined to be involved in bone development (PLXNA2, HHAT, MBOAT2, ITGAV) and calcium homeostasis (HPCAL1). Although further validation is needed at the transcript level, it is worth highlighting the association of a possible pathogenic variant which generated a new intronic branch-site sequence in PLXNA2 (T/C, CFA7:7043294). Considering previous studies in dogs that show SHM related to craniocervical junction (CCJ) malformations, these genes can be considered good candidates for the development of this disease. This report dissects the genomic component of SHM in dogs, which paves the way for further research on this complex disease found both in canine and human species.

Item Type:Article
Uncontrolled Keywords:Canine; Genome-wide association study (GWAS); Hydrosyringomyelia; Spinal cord; Syringomyelia
Subjects:Medical sciences > Veterinary > Animal culture
ID Code:77396
Deposited On:03 May 2023 14:10
Last Modified:03 May 2023 15:17

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