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SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy

Authors :
Brunetti, Barbara; https://orcid.org/0000-0002-2694-905X
Bacci, Barbara
Abbate, Jessica Maria; https://orcid.org/0000-0003-4532-9697
Tura, Giorgia
Paciello, Orlando
Vaccaro, Emanuela
Prisco, Francesco; https://orcid.org/0000-0002-0399-1239
Gandini, Gualtiero; https://orcid.org/0000-0001-9247-7110
Okonji, Samuel
Paola, Andrea di
Letko, Anna; https://orcid.org/0000-0002-6521-1285
Drögemüller, Cord; https://orcid.org/0000-0001-9773-522X
Jagannathan, Vidhya
Turba, Maria Elena
Ogundipe, Tolulope Grace; https://orcid.org/0000-0002-3976-6391
Lorenzini, Luca
Rosati, Marco; https://orcid.org/0000-0002-1485-1610
Psalla, Dimitra; https://orcid.org/0000-0002-1539-4124
Leeb, Tosso; https://orcid.org/0000-0003-0553-4880
Drögemüller, Michaela; https://orcid.org/0000-0001-9378-7903
Brunetti, Barbara; https://orcid.org/0000-0002-2694-905X
Bacci, Barbara
Abbate, Jessica Maria; https://orcid.org/0000-0003-4532-9697
Tura, Giorgia
Paciello, Orlando
Vaccaro, Emanuela
Prisco, Francesco; https://orcid.org/0000-0002-0399-1239
Gandini, Gualtiero; https://orcid.org/0000-0001-9247-7110
Okonji, Samuel
Paola, Andrea di
Letko, Anna; https://orcid.org/0000-0002-6521-1285
Drögemüller, Cord; https://orcid.org/0000-0001-9773-522X
Jagannathan, Vidhya
Turba, Maria Elena
Ogundipe, Tolulope Grace; https://orcid.org/0000-0002-3976-6391
Lorenzini, Luca
Rosati, Marco; https://orcid.org/0000-0002-1485-1610
Psalla, Dimitra; https://orcid.org/0000-0002-1539-4124
Leeb, Tosso; https://orcid.org/0000-0003-0553-4880
Drögemüller, Michaela; https://orcid.org/0000-0001-9378-7903
Source :
Brunetti, Barbara; Bacci, Barbara; Abbate, Jessica Maria; Tura, Giorgia; Paciello, Orlando; Vaccaro, Emanuela; Prisco, Francesco; Gandini, Gualtiero; Okonji, Samuel; Paola, Andrea di; Letko, Anna; Drögemüller, Cord; Jagannathan, Vidhya; Turba, Maria Elena; Ogundipe, Tolulope Grace; Lorenzini, Luca; Rosati, Marco; Psalla, Dimitra; Leeb, Tosso; Drögemüller, Michaela (2023). SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy. Genes, 14(8):1641.
Publication Year :
2023

Abstract

An 8-month-old female Lagotto Romagnolo dog was presented for a 1-month history of an initial severe reluctance to move, rapidly progressing to a marked stiff gait and progressive muscular weakness and evolving to tetraparesis, which persuaded the owner to request euthanasia. A primary muscle pathology was supported by necropsy and histopathological findings. Macroscopically, the muscles were moderately atrophic, except for the diaphragm and the neck muscles, which were markedly thickened. Histologically, all the skeletal muscles examined showed atrophy, hypertrophy, necrosis with calcification of the fibers, and mild fibrosis and inflammation. On immunohistochemistry, all three dystrophin domains and sarcoglycan proteins were absent. On Western blot analysis, no band was present for delta sarcoglycan. We sequenced the genome of the affected dog and compared the data to more than 900 control genomes of different dog breeds. Genetic analysis revealed a homozygous private protein-changing variant in the SGCD gene encoding delta- sarcoglycan in the affected dog. The variant was predicted to induce a SGCD:p.(Leu242Pro) change in the protein. In silico tools predicted the change to be deleterious. Other 770 Lagotto Romagnolo dogs were genotyped for the variant and all found to be homozygous wild type. Based on current knowledge of gene function in other mammalian species, including humans, hamsters, and dogs, we propose the SGCD missense variant as the causative variant of the observed form of muscular dystrophy in the index case. The absence of the variant allele in the Lagotto Romagnolo breeding population indicates a rare allele that has appeared recently.

Details

Database :
OAIster
Journal :
Brunetti, Barbara; Bacci, Barbara; Abbate, Jessica Maria; Tura, Giorgia; Paciello, Orlando; Vaccaro, Emanuela; Prisco, Francesco; Gandini, Gualtiero; Okonji, Samuel; Paola, Andrea di; Letko, Anna; Drögemüller, Cord; Jagannathan, Vidhya; Turba, Maria Elena; Ogundipe, Tolulope Grace; Lorenzini, Luca; Rosati, Marco; Psalla, Dimitra; Leeb, Tosso; Drögemüller, Michaela (2023). SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy. Genes, 14(8):1641.
Notes :
application/pdf, info:doi/10.5167/uzh-239941, English, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1443054192
Document Type :
Electronic Resource