Neuromuscular channelopathy, KCNG1-related

Phene ID

4815

Name

Neuromuscular channelopathy, KCNG1-related

Phene Name

N/A

OMIA ID

2483

Species ID

9913

Characterised

Yes

Characterised Year

2021

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."

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

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."