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

Variant Phenotype(s) References (Pubmed ID)
1750 MP:0008024: absent lymph nodes
MP:0011738: anasarca
MP:0005324: ascites
MP:0011099: lethality throughout fetal growth and development, complete penetrance
MP:0005312: pericardial effusion
MP:0010334: pleural effusion
MP:0001786: skin edema
MP:0003641: small lung
MP:0002217: small lymph nodes
39409761

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