Phenotypes

Becker et al. (2020) "detected a 50-kb deletion in the targeted chromosomal region that was in the heterozygous state in the cases’ sire" in whole genome sequencing data and "confirmed that this detected deletion segregated perfectly within the family with tetradysmelia. The deletion spanned three exons of the bovine R-spondin 2 (RSPO2) gene, which encode three domains of the respective protein."

Häfliger et al. (2022): "Whole-genome sequencing of the parent-offspring trio revealed a de novo mutation of ADAMTSL4 in this case. The heterozygous p.Arg776His missense variant affects a conserved residue of the ADAMTSL4 gene that encodes a secreted glycoprotein expressed in the lens throughout embryonic development." The authors were careful to note that "Given that this is a single case investigation and that we have no functional confirmat...

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.

For many years, there was circumstantial evidence that this disorder in cattle is due to a mutation in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules. This phene has been renamed from "Ehlers-Danlos syndrome, type VII (Dermatosparaxis)" to "Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related" in OMIA on the ...

In four Belgian Blue calves, Sartelet et al. (2015) identified the causal mutation as a nonsense mutation [c.7825C>T] "in the LAMA3 gene that creates a premature stop codon (p.Arg2609*) in exon 60, truncating 22% of the corresponding protein".

Besser et al. (1990) reported a congenital syndrome of long, thin limbs, severe joint and tendon laxity, microspherophakia, ectopia lentis, heart murmurs and aortic dilatation in 7 calves, where all sired by a single phenotypically normal bull suspected of germline mosaicism for a new mutation resulting in this disease. One of the calves died with ruptured aorta at age 16 months. Histopathologic and electron microscopic studies of the aortic m...

Häfliger et al. (2020; PMID 32069517): "Whole‐genome sequencing of one case, variant filtering against controls and genotyping of a larger cohort of Cika cattle led to the detection of a likely pathogenic protein‐changing variant perfectly associated with the disease: a missense variant on chromosome 6 in ADAMTS3 (NM_001192797.1: c.1222C>T), which affects an evolutionary conserved residue (NP_001179726.1: p.(His408Tyr))"