OMIA 002285-9940 : Muscular dystrophy, TNNT1-related in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605355 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific name: Ovine congenital progressive muscular dystrophy

Species-specific symbol: OCPMD

Molecular basis: Clayton et al. (2020) reported "the genetic cause of the well-characterized model of ovine congenital progressive muscular dystrophy from Western Australia", namely "a single base deletion at the splice donor site (+ 1) of intron 13 in the type I myofibre-specific TNNT1 gene (KT218690 c.614 + 1delG)".

Clinical features: Clayton et al. (2020): "The most prominent feature of the disease is a distinctive gait with stiffness of the hind limbs that can be seen as early as 3 weeks after birth. The disease is progressive. Histopathological examination had revealed dystrophic changes specifically in type I (slow) myofibres, while electron microscopy had demonstrated abundant nemaline bodies. Therefore, it was never certain whether the disease was a dystrophy or a congenital myopathy with dystrophic features." Based on evidence in this paper, the authors now "re-classify it as a congenital myopathy with dystrophic features".

Breed: Merino.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TNNT1 troponin T type 1 (skeletal, slow) Ovis aries 14 NC_056067.1 (63054110..63065847) TNNT1 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Merino Ovine congenital progressive muscular dystrophy TNNT1 deletion, small (<=20) Oar_rambouillet_v1.0 14 g.66970247del c.614+1del "KT218690 c.614 + 1delG" (Clayton et al., 2020); Oar3.1 chr14: g.59556001delG and Oar4.0 chr14: g.59437065delG (Josh Clayton, pers comm., 7 Sep 2020) is a splice variant 210906 to conform with HGVS notation, FN deleted the "G" from g.66970247delG and c.614+1delG 2020 32819427

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 Clayton, J.S., McNamara, E.L., Goullee, H., Conijn, S., Muthsam, K., Musk, G.C., Coote, D., Kijas, J., Testa, A.C., Taylor, R.L., O'Hara, A.J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N.G., Nowak, K.J. :
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. Acta Neuropathol Commun 8:142, 2020. Pubmed reference: 32819427. DOI: 10.1186/s40478-020-01017-1.
1997 Johnsen, R.D., Laing, N.G., Huxtable, C.R., Kakulas, B.A. :
Normal expression of adhalin and merosin in ovine congenital progressive muscular dystrophy Australian Veterinary Journal 75:215-216, 1997. Pubmed reference: 9088516. DOI: 10.1111/j.1751-0813.1997.tb10070.x.
1990 Nakada, H., Jacobsen, P.F., Johnsen, R.D., Kakulas, B.A. :
Positive Immunostaining of Ovine Congenital Progressive Muscular Dystrophy with Antibody Against N-Terminal and C- Terminal Dystrophin Australian Veterinary Journal 67:271-272, 1990. Pubmed reference: 2203334. DOI: 10.1111/j.1751-0813.1990.tb07789.x.
1989 Richards, R.B., Passmore, I.K. :
Ultrastructural Changes in Skeletal Muscle in Ovine Muscular Dystrophy Acta Neuropathologica 79:168-175, 1989. Pubmed reference: 2596265. DOI: 10.1007/BF00294375.
1988 Richards, R.B., Passmore, I.K., Dempsey, E.F. :
Skeletal muscle pathology in ovine congenital progressive muscular dystrophy. 1. Histopathology and histochemistry. Acta Neuropathol 77:161-7, 1988. Pubmed reference: 2976227. DOI: 10.1007/BF00687426.
Richards, R.B., Passmore, I.K., Dempsey, E.F. :
Skeletal muscle pathology in ovine congenital progressive muscular dystrophy. 2. Myofiber morphometry. Acta Neuropathol 77:95-99, 1988. Pubmed reference: 3239379. DOI: 10.1007/BF00688248.
Richards, R.B., Lewer, R.P., Passmore, I.K., McQuade, N.C. :
Ovine congenital progressive muscular dystrophy: mode of inheritance Australian Veterinary Journal 65:93-94, 1988. Pubmed reference: 3401155. DOI: 10.1111/j.1751-0813.1988.tb07373.x.
1986 Richards, R.B., Passmore, I.K., Bretag, A.H., Kakulas, B.A., McQuade, N.C. :
Ovine congenital progressive muscular dystrophy: clinical syndrome and distribution of lesions. Aust Vet J 63:396-401, 1986. Pubmed reference: 3800794. DOI: 10.1111/j.1751-0813.1986.tb15916.x.
1979 Dent, A.C., Richards, R.B., Nairn, M.E. :
Congenital progressive ovine muscular dystrophy in Western Australia. Aust Vet J 55:297, 1979. Pubmed reference: 518429. DOI: 10.1111/j.1751-0813.1979.tb14725.x.
1969 McGavin, M.D., Baynes, I.D. :
A congenital progressive ovine muscular dystrophy. Pathol Vet 6:513-24, 1969. Pubmed reference: 5393728. DOI: 10.1177/030098586900600604.

Edit History


  • Created by Frank Nicholas on 31 Aug 2020
  • Changed by Frank Nicholas on 31 Aug 2020