In other species: taurine cattle

Categories: Homeostasis / metabolism phene , Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618154 (trait) , 605011 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

Cross-species summary: See also entries for Hydrops foetalis: OMIA:000493

Species-specific name: Hydrops fetalis

Species-specific symbol: PHA

Inheritance: Woolley et al. (2024) report autosomal reccessive inheritance in Perisan sheep.

Mapping: Woolley et al. (2024): "SNP genotyping revealed a region of homozygosity in affected animals on ovine chromosome six, which contained the functional candidate gene ADAMTS3."

Molecular basis: Woolley et al. (2024): "Whole genome sequencing of two affected fetuses and one obligate carrier ewe revealed a single nucleotide deletion, ENSOARG00000013204:g.87124344delC, located 3 bp downstream from a donor splice site region in the ADAMTS3 gene. Sanger sequencing of cDNA containing this variant further revealed that it is likely to introduce an early splice site in exon 14, resulting in a loss of 6 amino acids at the junction of exon 14 and intron 14/15."

Clinical features: Woolley et al. (2024): "The affected [Persian] fetuses showed systemic oedema with high volumes of pleural fluid and were stillborn." Dams of affected lambs were abnormally large in late pregnancy and "showed bloating, lethargy, and recumbency. On vaginal examination of the ewes, it became apparent that the fetuses were profoundly large and edematous, requiring a caesarean section or euthanasia of the ewe." 

Pathology: Woolley et al. (2024) report necropsy and histopathological findings in affected Persian fetuses.

Breed: Persian (Sheep) (VBO_0016885).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: