Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603667 (gene) , 612949 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Molecular basis: Jacinto et al. (2026): "Whole-genome mapping and sequencing approaches identified a unique homozygous genome region of 1.2 Mb on chromosome 2 with a private homozygous missense variant in SLC25A12 (NM_001101194.2: c.1742G > A; NP_001094664.1:p.(Arg581Gln) [omia.variant:1853]) in three cases. This variant was absent in > 5,000 control genomes. The affected gene encodes a calcium-binding mitochondrial carrier protein and is a known candidate for neurogenetic disorders."

Clinical features:  Jacinto et al. (2026): "Affected calves presented blindness and stupor from birth and were unable to suckle without assistance."

Pathology:  Jacinto et al. (2026): "Brain examination revealed a bilateral symmetrical cavity in the cerebral cortex (porencephaly). Some of the affected calves also showed evidence of ongoing degeneration of the cerebellar cortex, typified by focal, spindle-shaped swellings found on the proximal axons of Purkinje cells ... within the inner granular layer and intra-myelinic phagocytes in the white matter of the cerebellar folia (cerebellar abiotrophy)."

Breed: Limousin (Cattle) (VBO_0000274).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: