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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 256030

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NEB nebulin Canis lupus familiaris 19 NC_006601.3 (52921064..52720427) NEB Homologene, Ensembl, NCBI gene

Variants

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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
American Bulldog Nemaline myopathy, NEB-related NEB nonsense (stop-gain) CanFam3.1 g.52734272C>A p.S8042* 2016 27215641

Reference


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