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OMIA 002211-10036 : Cardiomyopathy, hypertrophic, SGCD-related in Mesocricetus auratus

In other species: pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606685 (trait) , 601411 (gene)

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".

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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References


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.
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.

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  • Created by Frank Nicholas on 23 Sep 2019
  • Changed by Frank Nicholas on 23 Sep 2019