Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 160150 (trait) , 602378 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific name: Autosomal dominant centronuclear myopathy

Species-specific symbol: ADCNM

Species-specific description: Böhm et al. (2022) proposed that affected dogs be called DNM2-CNM dogs.

History: This disorder was first reported by Eminaga et al. (2012). In a letter to the editor of Veterinary Record, Eminaga et al. (2014) advised that "We would like to inform colleagues and border collie breeders that the mutation causing centronuclear myopathy in the only reported case in a border collie dog has been identified. Detailed description of the mutation will be published in a peer-reviewed paper." This discovery was published by Böhm et al. (2022).

Inheritance: Böhm et al. (2022): "In order to establish a large animal model for longitudinal and preclinical studies on the muscle disorder, we collected sperm samples from the Border Collie male and generated a dog cohort for subsequent clinical, genetic, and histological investigations. Four of the five offspring carried the DNM2 mutation and showed muscle atrophy and a mildly impaired gait."

Molecular basis: By sequencing functional candidate genes in an affected Border Collie, Böhm et al. (2022) discovered that this dog was heterozygous for a missense mutation in the DNM2 gene. The likely causal variant (c.1393C>T; R465W) happens to be the same as the most common causal variant in this gene in humans.

Breed: Border Collie (Dog) (VBO_0200193).
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: