OMIA:002539-9615 : Respiratory distress syndrome, ANLN-related in Canis lupus familiaris |
Categories: Respiratory system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 616027 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Species-specific name: 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_051818.1 (47746501..47796142) | ANLN | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 353 | Dalmatian | Respiratory distress syndrome | ANLN | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 14 | g.47812143C>T | 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 Imke Tammen2 on 19 Mar 2022
- Changed by Imke Tammen2 on 19 Mar 2022