OMIA 002579-9913 : Perinatal mortality syndrome, GCK-related in Bos taurus

Category: Mortality / aging (incl. embryonic lethal)

Possibly relevant human trait(s) and/or gene(s) (MIM number): 138079 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Inheritance: Pollott et al. (2022): "An initial analysis was undertaken which suggested that there was likely a genetic basis to the disease . . . , and since it was fatal, it could only be inherited as a recessive condition."

Molecular basis: Pollott et al. (2022): "Using whole genome sequencing of only three cases and six carriers, the site of a novel variant causing perinatal mortality in Irish moiled calves was located. Four methods were used to interrogate the variant call format (VCF) data file of these nine animals, they are genotype criteria (GCR), autozygosity-by-difference (ABD), variant prediction scoring, and registered SNP information. From more than nine million variants in the VCF file, only one site was identified by all four methods (Chr4: g.77173487A>T (ARS-UCD1.2 (GCF_002263795.1))." This splice-acceptor variant "was verified on an independent sample of animals from the breed using genotyping by polymerase chain reaction at the candidate site and autozygosity-by-difference using SNP-chips. Both methods confirmed the candidate site."

Clinical features: Pollott et al. (2022): "A number of Irish Moiled cattle breeders were concerned about the seemingly high occurrence of early calf deaths in their herds. Affected calves had the following characteristics: days 1–2, the calf appeared slightly hyperactive with more playing/skipping than normal, and may have been seen drinking water from troughs or puddles, and also urinating more frequently than normal. Days 2–4, the calf started to deteriorate and became dull and lethargic. Days 4–6, the calf became dehydrated, very weak, and unable to stand. Death followed soon after. A 2–4 day-old calf was clinically very similar to a calf with septicemia; however, in contrast to septicemic calves, these calves did not respond to antibiotics and fluids given via an intravenous drip. Also when the blood glucose level of such calves was tested levels exceeded 30 mmol/L (Normal = 8 mmol/L). Breeders referred to this condition as “diabetes.”"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GCK glucokinase Bos taurus 4 NC_037331.1 (77139658..77175873) GCK 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
1494 Irish Moiled (Cattle) Perinatal mortality syndrome, GCK-related GCK splicing Naturally occurring variant ARS-UCD1.2 4 g.77173487A>T 2022 36105082

Reference


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2022 Pollott, G.E., Piercy, R.J., Massey, C., Salavati, M., Cheng, Z., Wathes, D.C. :
Locating a novel autosomal recessive genetic variant in the cattle glucokinase gene using only WGS data from three cases and six carriers. Front Genet 13:755693, 2022. Pubmed reference: 36105082. DOI: 10.3389/fgene.2022.755693.

Edit History


  • Created by Frank Nicholas on 30 Sep 2022
  • Changed by Frank Nicholas on 30 Sep 2022