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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. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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
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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