OMIA 002178-9823 : Abortion, BBS9 and BMPER-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615986 , 608022

Mendelian trait/disorder: yes

Mode of inheritance: Recessive Embryonic Lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Species-specific description: Derks et al. (2018) describe "a lethal 212kb deletion with pleiotropic effects on two different genes, one resulting in fetal death in homozygous state (BMPER), and the other increasing growth (BBS9) in heterozygous state. We provide strong evidence for balancing selection resulting in an unexpected high frequency of a lethal allele in the population."

Molecular basis: Derks et al. (2018) identified "a recessive lethal deletion of 212kb (del) within the BBS9 gene in a breeding population of pigs. The deletion produces a truncated BBS9 protein expected to cause a complete loss-of-function, ...[and reduces] expression of the downstream BMPER gene, an essential gene for normal foetal development."

Clinical features: Derks et al. (2018): "Homozygous del/del animals die mid- to late-gestation, as observed from high increase in numbers of mummified piglets resulting from carrier-by-carrier crosses. ...heterozygous carriers exhibit increased growth rate, an important selection trait in pig breeding. Increased growth and appetite together with a lower birth weight for carriers of the BBS9 null allele in pigs is analogous to the phenotype described in human and mouse for (naturally occurring) BBS9 null-mutants."

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
BMPER BMP binding endothelial regulator Sus scrofa 18 NC_010460.4 (39664010..39417830) BMPER Homologene, Ensembl, NCBI gene
BBS9 Bardet-Biedl syndrome 9 Sus scrofa 18 NC_010460.3 (44336434..44115079) BBS9 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Large White Abortion, BBS9 and BMPER-related BBS9 deletion, gross (>20) Sscrofa11.1 18 g.39817373_40029300del Derks et al. (2018): "a large deletion in complete LD with the SSC18 haplotype of approximately 212kb (position 39,817,373 to 40,029,300), spanning a part of the BBS9 gene ... [and reducing] expression of the downstream BMPER gene" 2018 30231021


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.
2018 Derks, M.F.L., Lopes, M.S., Bosse, M., Madsen, O., Dibbits, B., Harlizius, B., Groenen, M.A.M., Megens, H.J. :
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. PLoS Genet 14:e1007661, 2018. Pubmed reference: 30231021. DOI: 10.1371/journal.pgen.1007661.
2017 Derks, M.F.L., Megens, H.J., Bosse, M., Lopes, M.S., Harlizius, B., Groenen, M.A.M. :
A systematic survey to identify lethal recessive variation in highly managed pig populations. BMC Genomics 18:858, 2017. Pubmed reference: 29121877. DOI: 10.1186/s12864-017-4278-1.

Edit History

  • Created by Frank Nicholas on 21 Mar 2019
  • Changed by Imke Tammen2 on 18 Apr 2021