Cleft palate, MYH3-related

Phene ID

5060

Name

Cleft palate, MYH3-related

Phene Name

N/A

OMIA ID

2590

Species ID

9913

Characterised

Yes

Characterised Year

2022

Vaiman et al. (2022): "Based on pedigree analysis, occurrence of cleft palate in Limousine cattle was concordant with an autosomal recessive mode of inheritance."

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."

Vaiman et al. (2022): "The mutations were included on the Illumina EuroG10k v8 and EuroGMD v1 SNP chips ..."