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Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies

Two unrelated 8‐month‐old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collie...

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Autores principales: Amengual‐Batle, Pablo, Rusbridge, Clare, José‐López, Roberto, Golini, Lorenzo, Shelton, G. Diane, Mellersh, Cathryn S., Gutierrez‐Quintana, Rodrigo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272042/
https://www.ncbi.nlm.nih.gov/pubmed/30307654
http://dx.doi.org/10.1111/jvim.15312
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author Amengual‐Batle, Pablo
Rusbridge, Clare
José‐López, Roberto
Golini, Lorenzo
Shelton, G. Diane
Mellersh, Cathryn S.
Gutierrez‐Quintana, Rodrigo
author_facet Amengual‐Batle, Pablo
Rusbridge, Clare
José‐López, Roberto
Golini, Lorenzo
Shelton, G. Diane
Mellersh, Cathryn S.
Gutierrez‐Quintana, Rodrigo
author_sort Amengual‐Batle, Pablo
collection PubMed
description Two unrelated 8‐month‐old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collies, the affected dogs were screened for an FAM134B mutation and were determined to be homozygous for the mutation. Despite few phenotypic similarities with other breeds, genetic testing for specific diseases should be considered in mixed breed dogs with compatible clinical signs, especially if ancestry is unknown.
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spelling pubmed-62720422018-12-05 Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies Amengual‐Batle, Pablo Rusbridge, Clare José‐López, Roberto Golini, Lorenzo Shelton, G. Diane Mellersh, Cathryn S. Gutierrez‐Quintana, Rodrigo J Vet Intern Med SMALL ANIMAL Two unrelated 8‐month‐old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collies, the affected dogs were screened for an FAM134B mutation and were determined to be homozygous for the mutation. Despite few phenotypic similarities with other breeds, genetic testing for specific diseases should be considered in mixed breed dogs with compatible clinical signs, especially if ancestry is unknown. John Wiley & Sons, Inc. 2018-10-11 2018 /pmc/articles/PMC6272042/ /pubmed/30307654 http://dx.doi.org/10.1111/jvim.15312 Text en © 2018 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle SMALL ANIMAL
Amengual‐Batle, Pablo
Rusbridge, Clare
José‐López, Roberto
Golini, Lorenzo
Shelton, G. Diane
Mellersh, Cathryn S.
Gutierrez‐Quintana, Rodrigo
Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
title Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
title_full Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
title_fullStr Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
title_full_unstemmed Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
title_short Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
title_sort two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting fam134b previously identified in border collies
topic SMALL ANIMAL
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272042/
https://www.ncbi.nlm.nih.gov/pubmed/30307654
http://dx.doi.org/10.1111/jvim.15312
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