A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract

Häfliger, Irene M.; Wolf-Hofstetter, Sonja; Casola, Christina; Hetzel, Udo; Seefried, Franz R.; Drögemüller, Cord (2022). A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract. Animal genetics, 53(3), pp. 416-421. Wiley 10.1111/age.13178

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Inherited forms of cataract are a heterogeneous group of eye disorders known in livestock species. Clinicopathological analysis of a single case of impaired vision in a newborn Original Braunvieh calf revealed nuclear cataract. 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. In humans, ADAMTSL4 genetic variants cause recessively inherited forms of subluxation of the lens. Given that ADAMTSL4 is a functional candidate gene for inherited disorders of the lens, we suggest that heterozygosity for the identified missense variant may have caused the congenital cataract in the affected calf. Cattle populations should be monitored for unexplained cataract cases, with subsequent DNA sequencing a hypothesized pathogenic effect of heterozygous ADAMTSL4 variants could be confirmed.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Häfliger, Irene Monika, Hofstetter, Sonja, Drögemüller, Cord

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
600 Technology > 630 Agriculture

ISSN:

1365-2052

Publisher:

Wiley

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

07 Mar 2022 12:40

Last Modified:

05 Dec 2022 16:11

Publisher DOI:

10.1111/age.13178

PubMed ID:

35233794

BORIS DOI:

10.48350/166270

URI:

https://boris.unibe.ch/id/eprint/166270

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