OMIA 000515-10036 : Cardiomyopathy, hypertrophic in Mesocricetus auratus

See the equivalent entry at NCBI

In other species: domestic cat , dog , pig , woolly monkeys , cattle , Arabian camel

Possible human homologue (MIM number): 192600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 1997

Cross-species summary: Increase in volume of the muscle tissue of the heart, due to an increase in the size of muscle cells, primarily in the left ventricle and ventricular septum.

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 - no genomic information (-..-) SGCD Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cardiomyopathy, hypertrophic SGCD deletion, gross (>20) a large deletion in the delta-SG gene 1997 9097966

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.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 08 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 26 Feb 2014