OMIA 002590-9913 : Cleft palate, MYH3-related in Bos taurus

Category: 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

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 ..."

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."

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)."

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).

Associated gene:

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

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
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

Reference


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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.

Edit History


  • Changed by Imke Tammen2 on 14 Nov 2022
  • Created by Imke Tammen2 on 14 Nov 2022