OMIA 002483-9913 : Neuromuscular channelopathy, KCNG1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 603788 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific description: Jacinto et al. (2021) "characterize the clinicopathologic features of a Belgian Blue x Holstein crossbred calf with paradoxical myotonia congenita, craniofacial dysmorphism, and myelodysplasia, and ... identify the most likely genetic etiology."

Inheritance: Jacinto et al. (2021) "speculate that the mutation occurred either as a parental germline mutation or post-zygotically in the developing embryo."

Molecular basis: Jacinto et al. (2021): "Whole-genome sequencing revealed a heterozygous missense variant in KCNG1 affecting an evolutionary conserved residue (p.Trp416Cys). The mutation was predicted to be deleterious and to alter the pore helix of the ion transport domain of the transmembrane protein. The identified variant was present only in the affected calf and not seen in more than 5200 other sequenced bovine genomes. ... This study implicates an important role for KCNG1 as a member of the potassium voltage-gated channel group in neurodegeneration."

Clinical features: Jacinto et al. (2021): "The calf displayed episodes of exercise-induced generalized myotonic muscle stiffness accompanied by increase in serum potassium. It also showed slight flattening of the splanchnocranium with deviation to the right side."

Pathology: Jacinto et al. (2021): "On gross pathology, myelodysplasia (hydrosyringomielia and segmental hypoplasia) in the lumbosacral intumescence region was noticed. Histopathology of the muscle profile revealed loss of the main shape in 5.3% of muscle fibers."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KCNG1 potassium channel, voltage gated modifier subfamily G, member 1 Bos taurus 13 NC_037340.1 (78934962..78918163) KCNG1 Homologene, Ensembl, NCBI gene

Variants

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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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1390 Neuromuscular channelopathy KCNG1 missense Naturally occurring variant ARS-UCD1.2 13 g.78918850C>A c.1248G>T p.(W416C) NM_001205719.1; NP_001192648.1 rs3423356335 2021 34828398

Reference


2021 Jacinto, J.G.P., Häfliger, I.M., Akyürek, E.E., Sacchetto, R., Benazzi, C., Gentile, A., Drögemüller, C. :
KCNG1-related syndromic form of congenital neuromuscular channelopathy in a crossbred calf. Genes (Basel) 12:1792, 2021. Pubmed reference: 34828398. DOI: 10.3390/genes12111792.

Edit History


  • Created by Imke Tammen2 on 01 Dec 2021
  • Changed by Imke Tammen2 on 01 Dec 2021