OMIA 000197-9823 : Cleft palate in Sus scrofa
Category: Digestive / alimentary phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 106250 (trait) , 106260 (trait) , 114300 (trait) , 119300 (trait) , 119500 (trait) , 119530 (trait) , 119540 (trait) , 119550 (trait) , 119570 (trait) , 119580 (trait) , 120433 (trait) , 129400 (trait) , 129810 (trait) , 129830 (trait) , 129900 (trait) , 164220 (trait) , 179400 (trait) , 181180 (trait) , 201180 (trait) , 216100 (trait) , 216300 (trait) , 218090 (trait) , 225000 (trait) , 231060 (trait) , 241850 (trait) , 242840 (trait) , 244300 (trait) , 255995 (trait) , 258320 (trait) , 260150 (trait) , 261800 (trait) , 268300 (trait) , 277170 (trait) , 301815 (trait) , 303400 (trait) , 600331 (trait) , 600460 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: Congenital fissure (split) that involves the hard or soft palate (roof of the mouth). Also known as palatoschisis.
Species-specific description: Grahofer et al. (2019) applied "recently improved genomic resources in pigs to evaluate a possible genetic cause for the occurrence of several piglets with palatoschisis [cleft palate] in the progeny of a single boar." The authors identified "a reciprocal translocation in the sire as the most likely genetic cause for the observed malformations noticed in some of the offspring". As explained in chapter 4 of Nicholas (2010; Introduction to Veterinary Genetics, 3rd edn, Wiley-Blackwell), sires that are heterozygous for a reciprocal translocation produce some unbalanced gametes. In this particular case, Grahofer et al. (2019) report that "All affected offspring were shown to be carriers of a partial trisomy of chromosome 14 including the FGFR2 gene, which is associated with various dominant inherited craniofacial dysostosis syndromes in man, and partial monosomy of chromosome 8 containing MSX1 known to be associated with tooth agenesis and orofacial clefts in other species."
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.
|2019||Grahofer, A., Letko, A., Häfliger, I.M., Jagannathan, V., Ducos, A., Richard, O., Peter, V., Nathues, H., Drögemüller, C. :|
|Chromosomal imbalance in pigs showing a syndromic form of cleft palate. BMC Genomics 20:349, 2019. Pubmed reference: 31068123. DOI: 10.1186/s12864-019-5711-4.|
|1963||Titze, K. :|
|Hare lip and cleft jaw and palate in piglets Deutsche Tierarztliche Wochenschrift 70:654-657, 1963. Pubmed reference: 5896704.|
|1958||Nes, N. :|
|Hereditary abnormalities of the tongue, cleft palate and harelip in pigs Nordisk Veterinaermedicin 10:625-643, 1958.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 15 May 2019