Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 225200 (trait) , 225100 (trait) , 610113 (gene)

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: