OMIA:002211-10036 : Cardiomyopathy, hypertrophic, SGCD-related in Mesocricetus auratus (golden hamster)
In other species: pig
Categories: Cardiovascular system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1997
History: The inbred line characterised by this disorder is called BIO14.6.
Molecular basis: By sequencing a positional candidate gene in the BIO14.6 strain, Nigro et al. (1997) identified a causal mutation in this strain and in the TO-2 strain (see OMIA 000162-10036) as being a large deletion in the delta-SG gene. Later that same year, Sakamoto et al. (1997) identified what appears to be the same causal mutation: "A breakpoint causing genomic deletion was found to be located at 6.1 kb 5′ upstream of the second exon of δ-SG gene, and its 5′ upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted. This deletion included the major transcription initiation site, resulting in a deficiency of δ-SG transcripts with the consequent loss of δ-SG protein in all the CM hamsters".
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SGCD||sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)||Mesocricetus auratus||NW_024429191.1 (27404137..26803015)||SGCD||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|652||Cardiomyopathy, hypertrophic||SGCD||deletion, gross (>20)||Naturally occurring variant||a large deletion in the delta-SG gene||1997||9097966|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2013||Rotundo, I.L., Lancioni, A., Savarese, M., D'Orsi, L., Iacomino, M., Nigro, G., Piluso, G., Auricchio, A., Nigro, V. :|
|Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy. Hum Gene Ther 24:424-30, 2013. Pubmed reference: 23427808. DOI: 10.1089/hum.2012.121.|
|2003||Mitsuhashi, S., Saito, N., Watano, K., Igarashi, K., Tagami, S., Shima, H., Kikuchi, K. :|
|Defect of delta-sarcoglycan gene is responsible for development of dilated cardiomyopathy of a novel hamster strain, J2N-k: calcineurin/PP2B activity in the heart of J2N-k hamster. J Biochem 134:269-76, 2003. Pubmed reference: 12966077. DOI: 10.1093/jb/mvg140.|
|1998||Straub, V., Duclos, F., Venzke, D.P., Lee, J.C., Cutshall, S., Leveille, C.J., Campbell, K.P. :|
|Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol 153:1623-30, 1998. Pubmed reference: 9811355. DOI: 10.1016/s0002-9440(10)65751-3.|
|1997||Dinardo, P., Fiaccavento, R., Natali, A., Minieri, M., Sampaolesi, M., Fusco, A., Janmot, C., Cuda, G., Carbone, A., Rogliani, P., Peruzzi, G. :|
|Embryonic gene expression in nonoverloaded ventricles of hereditary hypertrophic cardiomyopathic hamsters Laboratory Investigation 77:489-502, 1997. Pubmed reference: 9389792.|
|Nigro, V., Okazaki, Y., Belsito, A., Piluso, G., Matsuda, Y., Politano, L., Nigro, G., Ventura, C., Abbondanza, C., Molinari, A.M., Acampora, D., Nishimura, M., Hayashizaki, Y., Puca, G.A. :|
|Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 6:601-7, 1997. Pubmed reference: 9097966.|
|Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyooka, T., Hanaoka, F. :|
|Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster - an animal model of disrupted dystrophin-associated glycoprotein complex Proceedings of the National Academy of Sciences of the United States of America 94:13873-13878, 1997. Pubmed reference: 9391120.|
|1982||Jasmin, G., Proschek, L. :|
|Hereditary polymyopathy and cardiomyopathy in the Syrian hamster. I. Progression of heart and skeletal muscle lesions in the UM-X7.1 line. Muscle Nerve 5:20-5, 1982. Pubmed reference: 7057801. DOI: 10.1002/mus.880050105.|
- Created by Frank Nicholas on 23 Sep 2019
- Changed by Frank Nicholas on 23 Sep 2019
- Changed by Imke Tammen2 on 17 Sep 2022