OMIA:002590-9913 : Cleft palate, MYH3-related in Bos taurus
Categories: Digestive / alimentary phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 160720 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Cross-species summary: Palatoschisis
History: Vaiman et al. (2022): "A new form of non-syndromic cleft palate arose recently in Limousine cattle, with animals referred to the French National Observatory of Bovine Abnormalities since 2012. Since the number of affected animals has increased steadily ..."
Jacinto et al. (2023) report a Swiss Limousine cow with cleft palate with the same likely causal variants in MYH3.
Inheritance: Vaiman et al. (2022): "Based on pedigree analysis, occurrence of cleft palate in Limousine cattle was concordant with an autosomal recessive mode of inheritance."
Mapping: Vaiman et al. (2022): "Genotyping of 16 affected animals and homozygosity mapping led to the identification of a single disease-associated haplotype on Bos taurus chromosome (BTA)19."
Molecular basis: Vaiman et al. (2022): "The genome of two affected animals was sequenced ... . ... two fully linked mutations in exon 24 of the MYH3 (myosin heavy chain) gene were detected: a 1-bp non-synonymous substitution (BTA19:g.29609623A>G) and a 11-bp frameshift deletion (BTA19:g.29609605-29609615del). These two mutations were specific to the Limousine breed, with an estimated allele frequency of 2.4% and are predicted to be deleterious. ... mRNA and protein analyses in muscles from wild-type and affected animals revealed a decrease in MYH3 expression in affected animals ... . MYH3 is mostly expressed in muscles, including craniofacial muscles, during embryogenesis, and its absence may impair palate formation."
Jacinto et al. (2023) identified the same homozygous variants identified by Vaiman et al. (2022) (chr19:29609604TGTCAGCTCAAG>T; NP_001095305.1:p.Leu958_Leu962delinsThrGlyGlnGlyTer and chr19:29609623A>G, c.2864T>C; NP_001095305.1:p.Ile955Thr) in an affected Swiss Limousine heifer. The authors conclude that whether "the MYH3 missense or the loss-of-function variant, or both, is actually causal remains open."
Clinical features: Vaiman et al. (2022): "Twenty-six Limousine calves presenting with CP [cleft palate] ... . Bilateral nasal discharge after suckling was observed in the calves shortly after birth ... . Life expectancy was generally short; most animals were euthanized in the first 2 weeks of life due to their difficulty to feed. However, five calves reached 1 month of age or more. In these five affected animals, chronic lower airway infection was often reported, due to dysphagia. CP was classified as Veau II, as it always affected both the soft and hard palates ... . CP was non-syndromic for approximately two thirds of the cases. In the remaining one third, other clinical signs were associated with CP, such as a stunted growth (6/26), bent/twisted neck (3/26 ...), vertebral column deformations, for example kyphosis or scoliosis (3/26), macroglossia (2/26 ...), or joint deformations (1/26)."
Prevalence: Jacinto et al. (2023) estimated the prevalence of MYH3 carriers within the Swiss Limousine population: "The frequency of the variant allele in 1167 genotyped cattle was 1.5%, with only 34 heterozygous carriers detected."
Genetic testing: Vaiman et al. (2022): "The mutations were included on the Illumina EuroG10k v8 and EuroGMD v1 SNP chips ..."
Breed: Limousin (Cattle) (VBO_0000274).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYH3||myosin, heavy chain 3, skeletal muscle, embryonic||Bos taurus||19||NC_037346.1 (29622481..29601526)||MYH3||Homologene, Ensembl , NCBI gene|
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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|
|1500||Limousin (Cattle)||Cleft palate||MYH3||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||19||g.[29609605-29609615del;29609623A>G]||c.[2864T>C;2872_2882del]||c.[I955T; p.L958Tfs*5]||NM_001101835.1||2022||36309651|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Jacinto, J.G.P., Schiavon, E., Häfliger, I.M., Coin, P., Seefried, F.R., Drögemüller, C. :|
|MYH3-associated non-syndromic palatoschisis (cleft palate, CP) in Limousine cattle. Anim Genet :, 2023. Pubmed reference: 36944326 . DOI: 10.1111/age.13316.|
|Jacinto, J.G.P., Schiavon, E., Häfliger, I.M., Coin, P., Seefried, F.R., Drögemüller, C. :|
|MYH3-associated non-syndromic palatoschisis (cleft palate, CP) in Limousine cattle. Anim Genet :, 2023. Pubmed reference: 36967223 . DOI: 10.1111/age.13317.|
|2022||Vaiman, A., Fritz, S., Beauvallet, C., Boussaha, M., Grohs, C., Daniel-Carlier, N., Relun, A., Boichard, D., Vilotte, J.L., Duchesne, A. :|
|Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle. Genet Sel Evol 54:71, 2022. Pubmed reference: 36309651 . DOI: 10.1186/s12711-022-00762-2.|
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