OMIA 000101-9615 : Respiratory distress syndrome in Canis lupus familiaris |
In other species:
pig
Possibly relevant human trait(s) and/or gene(s) (MIM number):
267450
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2017
Cross-species summary:
Also known as Acute respiratory distress syndrome (ARDS)
Inheritance:
Eleven affected dogs were from 4 litters, all having a common ancestor. Segregation analysis suggested autosomal recessive inheritance. (Jarvinen et al., 2009)
Molecular basis:
Holopainen et al. (2017) "combined SNP-based homozygosity mapping of two ARDS-affected Dalmatian dogs and whole genome sequencing of one affected dog to identify a case-specific homozygous nonsense variant, c.31C>T; p.R11* in the ANLN gene. Subsequent analysis of the variant in a total cohort of 188 Dalmatians, including seven cases, indicated complete segregation of the variant with the disease and confirmed an autosomal recessive mode of inheritance".
Clinical features:
Tachypnea and noisy respiration. Shortly before death: respiratory distress, characterized by strenuous and rapid respirations, together with cyanosis and vomiting.
Breed:
Dalmatian.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ANLN | anillin actin binding protein | Canis lupus familiaris | 14 | NC_006596.3 (47805113..47854749) | ANLN | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dalmatian | Respiratory distress syndrome | ANLN | nonsense (stop-gain) | CanFam3.1 | 14 | g.47812143 | c.31C>T | p.R11* | 2017 | 28222102 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2017 | Holopainen, S., Hytönen, M.K., Syrjä, P., Arumilli, M., Järvinen, A.K., Rajamäki, M., Lohi, H. : | |
| ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PLoS Genet 13:e1006625, 2017. Pubmed reference: 28222102. DOI: 10.1371/journal.pgen.1006625. | ||
| 2009 | Syrjä, P., Saari, S., Rajamäki, M., Saario, E., Järvinen, A.K. : | |
| Pulmonary histopathology in dalmatians with familial acute respiratory distress syndrome (ARDS). J Comp Pathol 141:254-9, 2009. Pubmed reference: 19628215. DOI: 10.1016/j.jcpa.2009.05.008. | ||
| 1995 | Jarvinen, A.K., Saario, E., Andresen, E., Happonen, I., Saari, S., Rajamaki, M. : | |
| Lung injury leading to respiratory distress syndrome in young Dalmatian dogs Journal of Veterinary Internal Medicine 9:162-168, 1995. Pubmed reference: 7674217. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 23 Feb 2017