OMIA:002535-9913 : Cataract, ADAMTSL4-related in Bos taurus
Categories: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Molecular basis: 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."
Clinical features: Häfliger et al. (2022): "Clinicopathological analysis of a single case of impaired vision in a newborn Original Braunvieh calf revealed nuclear cataract".
Breed: Original Schweizer Braunvieh, Switzerland (Cattle) (VBO_0003764).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ADAMTSL4||ADAMTS like 4||Bos taurus||3||NC_037330.1 (20155172..20144001)||ADAMTSL4||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.
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|
|1435||Original Schweizer Braunvieh, Switzerland (Cattle)||Congenital cataract||ADAMTSL4||missense||Naturally occurring variant||ARS-UCD1.2||3||g.20146737C>T||c.2327G>A||p.(R776H)||NM_001101061.1; NP_001094531.1||rs5353205567||2022||35233794|
Cite this entry
|2022||Häfliger, I.M., Wolf-Hofstetter, S., Casola, C., Hetzel, U., Seefried, F.R., Drögemüller, C. :|
|A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract. Anim Genet 53:416-421, 2022. Pubmed reference: 35233794 . DOI: 10.1111/age.13178.|
- Created by Frank Nicholas on 10 Mar 2022
- Changed by Frank Nicholas on 10 Mar 2022
- Changed by Frank Nicholas on 10 Nov 2022