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".

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Tachypnea and noisy respiration. Shortly before death: respiratory distress, characterized by strenuous and rapid respirations, together with cyanosis and vomiting.

Breed: Dalmatian (Dog) (VBO_0200427).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: