Osteopetrosis, DCAF12L2-related
Phenotype Details
- Phene ID
- 6694
- Name
- Osteopetrosis, DCAF12L2-related
- Phene Name
- N/A
- OMIA ID
- 3019
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Molecular Genetics
Jacinto et al. (2025): "A female Angus x Holstein crossbred calf ... was pathologically diagnosed with a syndromic form of osteopetrosis. The [whole genome sequencing] trio-approach identified a heterozygous pathogenic stop-gained variant in exon 1 of LOC112445140, also known as DDB1- and CUL4-associated factor 12-like protein (ChrX: g.10872688G > T; c.332C > A; p.Ser111*) [omia.variant:1839]. We think that the variant arose post-zygotically as a spontaneous de novo mutation during the development of the embryo, as no variant reads were observed in either parental DNA."