In other species: dog , domestic cat , horse , taurine cattle , goat , sheep , water buffalo

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 160800 (trait) , 255700 (trait) , 118425 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2019

Cross-species summary: Myotonia congenita

Species-specific description: Araújo et al. (2019) "describe for the first time the clinical and molecular characterization of a form of Hereditary Myotonia affecting pigs."

Inheritance: Araújo et al. (2019): "The condition seems to follow an autosomal recessive inheritance pattern exhibiting classical clinical signs of Hereditary Myotonia."

Molecular basis: Araújo et al. (2019): "sequenced the entire [CLCN1] coding region of two myotonic pigs (animals A and B) and two non-myotonic pigs (animals C1 and C2 of the control group). RT-PCR reactions carried out using cDNA samples of non-myotonic animals amplified specific products for each primer set designed, covering all CLCN1 gene coding region, whereas reactions using cDNA samples of myotonic animals did not amplify nucleotides of exons 15 and 16, suggesting the absence of those exons in myotonic pigs. ... To gain better insight into the deletion identified in transcripts of myotonic pigs, we sequenced a relevant genomic region of 6,390 nucleotides including a region within intron 14 up to a region within intron 16 in five myotonic animals ... and in two non-myotonic animals ... . Sequencing analysis revealed a 4,165-nucleotide intragenic deletion in all tested myotonic animals ... . The deletion comprised a partial fragment in the 3′ region of intron 14 (1,137 bp), exon 15 (214 bp), intron 15 (245 bp), exon 16 (134 bp), and a partial fragment in the 5′ region of intron 16 (2,435 bp). Sequencing analysis also mapped the exact breakpoint location at positions Chr18:6,912,538 and Chr18:6,916,702 (g. NC_010460.4 del 6912538_6916702)."

Associated gene: