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 confirmation, this result must be considered preliminary and should be interpreted with caution. However, it must also be emphasized that the analysis was not suitable for identifying larger structural variants. Further isolated cases of cataract in cattle could be investigated for ADAMTSL4 variants by DNA sequencing."
