Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs

PloS One
Lluís SánchezLouise M Burmeister

Abstract

Four full-sibling intact male Miniature Poodles were evaluated at 4-19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated serum creatine kinase activity. Two affected dogs also showed poor development, learning difficulties and episodes of abnormal behaviour. In these two dogs, investigations into forebrain structural and metabolic diseases were unremarkable; electromyography demonstrated fibrillation potentials and complex repetitive discharges in the infraspinatus, supraspinatus and epaxial muscles. Histopathological, immunohistochemical and immunoblotting analyses of muscle biopsies were consistent with dystrophin-deficient muscular dystrophy. DNA samples were obtained from all four full-sibling male Poodles, a healthy female littermate and the dam, which was clinically normal. Whole genome sequencing of one affected dog revealed a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene. The exact deletion breakpoints could not be experimentally ascertained, but we confirmed that this region was deleted in all affected males, but not in the unaffected dogs. Quantitative polymerase ...Continue Reading

References

Feb 1, 1992·American Journal of Medical Genetics·B A ValentineB J Cooper
Feb 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G BulfieldK J Moore
Jul 9, 1998·Muscle & Nerve·S J SchatzbergN J Sharp
Aug 6, 1994·Transfusion Science·J L Ferrara
Jul 17, 1999·Neuromuscular Disorders : NMD·S J SchatzbergN J Sharp
Jul 17, 1999·Neuromuscular Disorders : NMD·E M HoogerwaardM de Visser
Jan 29, 2000·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·W El NemerC L Kim
Jan 12, 2002·The Veterinary Clinics of North America. Small Animal Practice·G Diane Shelton, Eva Engvall
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Aug 6, 2003·Neuromuscular Disorders : NMD·Joe N KornegayCarol S Okamura
Nov 25, 2003·International Journal of Experimental Pathology·C A Collins, J E Morgan
Feb 8, 2005·Neuromuscular Disorders : NMD·G Diane Shelton, Eva Engvall
Jul 7, 2007·Journal of the American Animal Hospital Association·Wendy Irene BaltzerJoerg M Steiner
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 30, 2010·The Journal of General Physiology·Jeffery A Goldstein, Elizabeth M McNally
Jul 9, 2010·Radiologic Clinics of North America·Gopinathan AnilWilfred C G Peh
Aug 18, 2010·Laboratory Investigation; a Journal of Technical Methods and Pathology·Bruce F SmithDongsheng Duan
Sep 8, 2010·Neuromuscular Disorders : NMD·Ling T GuoG Diane Shelton
Jan 18, 2011·Journal of the American Veterinary Medical Association·Natasha J OlbyScott J Schatzberg
Apr 7, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Christophe PichavantJacques P Tremblay
Jan 6, 2012·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Joe N KornegayEric P Hoffman
Mar 28, 2012·Annals of Neurology·Jerry R MendellRobert B Weiss
Mar 15, 2000·Journal of the American Veterinary Medical Association·C A WettermanG D Shelton
Aug 21, 2013·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·S PouwelsF de Vries
Jul 10, 2014·Scientific Reports·Katsuyuki NakamuraMasugi Nishihara
Mar 6, 2015·Disease Models & Mechanisms·Joe W McGreevyDongsheng Duan
Sep 25, 2015·Canine Genetics and Epidemiology·Christopher A Jenkins, Oliver P Forman
Dec 29, 2016·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Peter P NghiemJoe N Kornegay
Mar 28, 2017·Molecular Therapy. Methods & Clinical Development·D Jake VanBelzenHansell H Stedman
Jul 26, 2017·Nature Communications·Caroline Le GuinerGeorge Dickson

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Citations

Aug 28, 2019·Journal of Neuromuscular Diseases·Inès BarthélémyLaurent Tiret
Aug 31, 2019·Animal Genetics·Hattie Edith WrightLouise Mary Burmeister
Dec 15, 2019·Molecular Neurobiology·Michael Naidoo, Karen Anthony
Jan 8, 2021·Skeletal Muscle·James R MickelsonG Diane Shelton
Nov 30, 2020·Topics in Companion Animal Medicine·C SalvadoriC Cantile
Nov 12, 2021·Frontiers in Veterinary Science·Melissa GuntherChristopher Paige

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Datasets Mentioned

BETA
PRJEB22955

Methods Mentioned

BETA
blood drawn
biopsies
biopsy
Illumina sequencing
PCR
genotyping
X-ray
environmental stress

Software Mentioned

Integrative Genomics Viewer ( IGV )
Burrows Aligner ( BWA )
Genome Analysis Toolkit ( GTAK )
IGV
PrimerQuest® Design
Ensembl genome browser

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