Categories: Skeleton phene (incl. short stature & teeth)

Single-gene trait/disorder: yes

Mode of inheritance: X-linked dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Molecular basis: 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."

Associated gene: