OMIA 002304-9685 : Cardiomyopathy, hypertrophic, TNNT2 related in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 191045 , 601494 , 612422 , 115195 , 601494

Mendelian trait/disorder: yes

Mode of inheritance: Probably Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

History: McNamara et al. (2020) report the association between a predicted splice mutation affecting the TNNT2 gene and hypertrophic cardiomyopathy in a single affected Main Coon cat that "was born from consanguineous breeding". Mutations in the TNNT2 gene are associated with 'Cardiomyopathy, dilated' in turkeys (OMIA 000162-9103) and various inherited human cardiomyopathies.

Molecular basis: McNamara et al. (2020) “identified a novel, homozygous intronic variant in cardiac troponin T (TNNT2)” in a “Maine Coon [cat] with cardiomyopathy that tested negative for the MYBPC3 A31P variant” [OMIA000515-9685]. “In silico analysis of the variant suggested that it may affect normal splicing of exon 3 of TNNT2. Both parents tested heterozygous for the mutation, but were unaffected by the disease.”

Clinical features: McNamara et al. (2020): “The proband was a privately-owned male pure-bred Maine Coon. At 8 months of age, he presented with left ventricular, right atrial, and borderline left atrial dilatation and borderline septal hypertrophy, with preserved-to-elevated systolic function …, when compared to reference echocardiography values for the Maine Coon (Drourr et al., 2005). Diastolic function could not be quantified as a result of fusion of E and A waves. Progressive enlargement of all four chambers of the heart was noted at 14 months of age, while borderline septal hypertrophy and preserved systolic function was still noted. This was diagnosed as a primary unclassified cardiomyopathy with possible early congestive heart failure.”

Breed: Maine Coon.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TNNT2 troponin T type 2 (cardiac) Felis catus F1 NC_018739.3 (42214083..42194772) TNNT2 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.

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
Maine Coon Cardiomyopathy, hypertrophic TNNT2 splicing Felis_catus_9.0 F1 g.42204052C>T c.95-108G>A This particular variant was a single base pair substitution (G to A) within intron 3, corresponding to c.95-108G > A of ENSFCAG00000004613 (McNamara et al., 2020) 2020 33304277

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.
2020 McNamara, J.W., Schuckman, M., Becker, R.C., Sadayappan, S. :
A novel homozygous intronic variant in TNNT2 associates with feline cardiomyopathy. Front Physiol 11:608473, 2020. Pubmed reference: 33304277. DOI: 10.3389/fphys.2020.608473.
2005 Drourr, L., Lefbom, B.K., Rosenthal, S.L., Tyrrell, W.D. :
Measurement of M-mode echocardiographic parameters in healthy adult Maine Coon cats. J Am Vet Med Assoc 226:734-7, 2005. Pubmed reference: 15776945. DOI: 10.2460/javma.2005.226.734.

Edit History


  • Created by Imke Tammen2 on 18 Dec 2020
  • Changed by Imke Tammen2 on 18 Dec 2020