Journal article
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers
Skeletal muscle, Vol.7, 15
2017
DOI: 10.1186/s13395-017-0131-0
PMCID: PMC5506588
PMID: 28697784
Abstract
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. Methods: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog. Results: Within sarcoglycan-δ (SGCD), a two base pair deletion segregating with LGMD in the family was discovered, and a deletion encompassing exons 7 and 8 was found in the unrelated dog. Both mutations are predicted to cause an absence of SGCD protein, confirmed by immunohistochemistry. The mutations are private to each family. Conclusions: Here, we describe the first cases of canine LGMD characterized at the molecular level with the classification of LGMD2F.
Details
- Title: Subtitle
- Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers
- Creators
- Melissa L Cox - CAG GmbH - Center for Animal Genetics, Paul-Ehrlich-Str. 23, 72076 Tubingen, GermanyJacquelyn M Evans - Department of Genetics and Biochemistry, Clemson University, 130 McGinty Ct., Clemson, SC 29634 USAAlexander G Davis - Department of Genetics and Biochemistry, Clemson University, 130 McGinty Ct., Clemson, SC 29634 USALing T Guo - Department of Pathology, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093 USAJennifer R Levy - Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, 4283 Carver Biomedical Research Building, 285 Newton Road, Iowa City, Iowa 52242 USAAlison N Starr-Moss - Department of Genetics and Biochemistry, Clemson University, 130 McGinty Ct., Clemson, SC 29634 USAElina Salmela - Folkhälsan Institute of Genetics, Helsinki, FinlandMarjo K Hytönen - Folkhälsan Institute of Genetics, Helsinki, FinlandHannes Lohi - Folkhälsan Institute of Genetics, Helsinki, FinlandKevin P Campbell - Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, 4283 Carver Biomedical Research Building, 285 Newton Road, Iowa City, Iowa 52242 USALeigh Anne Clark - Department of Genetics and Biochemistry, Clemson University, 130 McGinty Ct., Clemson, SC 29634 USAG Diane Shelton - Department of Pathology, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093 USA
- Resource Type
- Journal article
- Publication Details
- Skeletal muscle, Vol.7, 15
- DOI
- 10.1186/s13395-017-0131-0
- PMID
- 28697784
- PMCID
- PMC5506588
- NLM abbreviation
- Skelet Muscle
- eISSN
- 2044-5040
- Publisher
- England
- Grant note
- R15 AR062868 / NIAMS NIH HHS
- Language
- English
- Date published
- 2017
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020894802771
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