OMIA:001562-9940 : Pulmonary hypoplasia with anasarca, ADAMTS3-related in Ovis aries (sheep) |
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)
Single-gene 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:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ADAMTS3 | ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ovis aries | 6 | NC_056059.1 (88472516..88181089) | ADAMTS3 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1750 | Persian (Sheep) | Pulmonary hypoplasia with anasarca | ADAMTS3 | splicing | Naturally occurring variant | Oarv3.1 | 6 | NC_019463.1:g.87124344del | XM_012180125.1:c.2055+3del | XP_012035515.1:p.(V680_V685del) | the variant results in the activation of a cryptic splice site within exon 14 | 2024 | 39409761 |
Clinical synopsis/links to phenotypes
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001562-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Woolley, S.A., Hopkins, B., Khatkar, M.S., Jerrett, I.V., Willet, C.E., O'Rourke, B.A., Tammen, I. : |
A splice site variant in ADAMTS3 is the likely causal variant for pulmonary hypoplasia with anasarca in Persian/Persian-cross sheep. Animals (Basel) 14:2811, 2024. Pubmed reference: 39409761. DOI: 10.3390/ani14192811. |
Edit History
- Created by Imke Tammen2 on 17 Oct 2024
- Changed by Imke Tammen2 on 17 Oct 2024