OMIA:002137-9615 : Nemaline myopathy, NEB-related in Canis lupus familiaris (dog)

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 256030 (trait) , 161650 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

History: Evans et al. (2016) described "a novel NM [nemaline myopathy] in a family of American bulldogs"

Molecular basis: Evans et al. (2016) reported a likely causal variant, namely "a nonsense mutation in NEB (g.52734272 C>A, S8042X) . . . The pathogenic variant was absent from 120 dogs of 24 other breeds and 100 unrelated ABDs, suggesting that it occurred recently and may be private to the family".

Clinical features: Evans et al. (2016): "Affected dogs could independently ambulate, had generalized atrophy, and the myopathy was relatively non-progressive (Supplemental video). Atrophy of the cervical and dorsal thoracic limb muscles was noted with bilateral hypertrophy of the triceps muscles. Serum creatine kinase (CK) activities were mildly elevated. Electromyography (EMG) revealed spontaneous electrical activity, consisting mainly of fibrillation potentials, within the proximal appendicular muscles of the thoracic limbs and the cervical paraspinal musculature. Motor nerve conduction velocity (MNCV) testing showed a mild decrease in the latency of the tibial and ulnar nerves. Respiratory difficulties were not present."

Breed: American Bulldog (Dog) (VBO_0200034).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NEB nebulin Canis lupus familiaris - no genomic information (-..-) NEB 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 Year Published PubMed ID(s) Acknowledgements
961 American Bulldog (Dog) Nemaline myopathy, NEB-related NEB nonsense (stop-gain) Naturally occurring variant CanFam3.1 19 g.52734272G>T p.(S8042*) NP_001258137.1 2016 27215641

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:002137-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2016 Evans, J.M., Cox, M.L., Huska, J., Li, F., Gaitero, L., Guo, L.T., Casal, M.L., Granzier, H.L., Shelton, G.D., Clark, L.A. :
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mamm Genome 27:495-502, 2016. Pubmed reference: 27215641. DOI: 10.1007/s00335-016-9644-9.

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  • Created by Frank Nicholas on 24 Jan 2018