Cleft Palate, Limousin

 

Gene: MYH3

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutations:
Substitution, MYH3 gene; c.2864 T>C, exon 24
Deletion, MYH3 gene; c.2872_2882 del.CTTGAGCTGAC, exon 24
p.(L958T), frame shift with premature STOP after 5 amino acids. Bovine chromosome 9

Medical systems: digestive, skeletal

Breed: Limousin

Age of onset of symptoms: symptoms are evident immediately after birth.

Cleft palate is a congenital anomaly (visible at birth) characterized by an opening (lack of closure) in the hard and soft palate of affected animals. Causes include genetic mutations or environmental insults.  Cleft palate can present in a syndromic (with other abnormalities) or non-syndromic (without other abnormalities) manner.  Cleft palate has been seen in the Limousine cow since 2012.

Affected calves suffer from cleft palate, bilateral nasal discharge from their first feeding, poor feeding, malnutrition, dehydration, chronic airway infections caused by milk or water aspiration, and stunted growth.  Without surgical repair, the life expectancy of affected calves is only days to months.

Pedigree analysis followed by molecular studies revealed deleterious mutations in the MYH3 gene, which codes for a poorly characterized protein that belongs to the Myosin heavy chain family.  A survey of Limousin cattle estimated the frequency of the mutated allele at 2.4%.

 

References:

OMIA link: [2590-9913]

Jacinto JGP, Schiavon E, Häfliger IM. (2023) MYH3-associated non-syndromic palatoschisis (cleft palate, CP) in Limousine cattle. Anim Genet.  [pubmed/36967223].

Vaiman A, Fritz S, Beauvallet C, et al. (2022) Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle. Genet Sel Evol. 54(1):71. [pubmed/36309651]

Contributed by: Mélina Gilbert and Christy El-Freih, Class of 2027, Faculté de médecine vétérinaire, Université de Montréal.   (Translation DWS).