Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

G. Diane Shelton; Katie M. Minor; Stephanie Thomovsky; Ling T. Guo; Steven G. Friedenberg; Jonah N. Cullen; James R. Mickelson

doi:10.1111/jvim.16330

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

G. Diane Shelton, Katie M. Minor, Stephanie Thomovsky, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, James R. Mickelson

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5 Scopus citations

Abstract

A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.

Original language	English (US)
Pages (from-to)	279-284
Number of pages	6
Journal	Journal of veterinary internal medicine
Volume	36
Issue number	1
DOIs	https://doi.org/10.1111/jvim.16330
State	Published - Jan 1 2022

Bibliographical note

Funding Information:
NIH Career Development Award, Grant/Award Number: K01 OD027058 Funding information

Publisher Copyright:
© 2021 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.

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title = "Congenital muscular dystrophy in a dog with a LAMA2 gene deletion",

abstract = "A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.",

author = "Shelton, {G. Diane} and Minor, {Katie M.} and Stephanie Thomovsky and Guo, {Ling T.} and Friedenberg, {Steven G.} and Cullen, {Jonah N.} and Mickelson, {James R.}",

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AU - Minor, Katie M.

AU - Thomovsky, Stephanie

AU - Guo, Ling T.

AU - Friedenberg, Steven G.

AU - Cullen, Jonah N.

AU - Mickelson, James R.

N1 - Funding Information: NIH Career Development Award, Grant/Award Number: K01 OD027058 Funding information Publisher Copyright: © 2021 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.

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N2 - A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.

AB - A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.

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Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

Abstract

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