Alaskan Malamute — Ciliary dyskinesia, primary, NME5-related (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Breed: Alaskan Malamute (Dog)
Disorder:
Mode of inheritance: Autosomal recessive
Summary: Several types of primary ciliary dyskinesia exist. See also 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' and 'OMIA000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris'.
Clin feat: Anderegg et al. (2019): severe bronchial lung pattern and bronchiectasis on thoracic radiographs in both dogs . . . Direct rhinoscopy and bronchoscopy revealed hyperemic mucosa, medium to large amount of mucopurulent secretions along the upper and lower airway tracts and moderate to severe turbinate lysis in the nasal cavity in both dogs . . . Bronchoalveolar lavage fluid was compatible with chronic active purulent bronchopneumonia.
Defect: yes
Pathology: Electron microscopy of cilia from nasal epithelium revelaed alterations at the inner and outer dynein arms of motile cilia. Inner dynein arms were shortened or absent in 95% - 100% of the investigated cilia, outer dynein arms were shortend or absent in 60% - 80% of cilia. In normal cilia, there is a 9 + 2 arrangement of microtubules with two single microtubules in the center and nine pairs of peripheral microtubules. In an affected dog, extra peripheral microtubule singlets appeared occasionally (Anderegg et al. 2019).
Prevalence: Anderegg et al. (2019): The mutant allele was not present in more than 1000 control dogs from different breeds.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: Entrez Gene ID 388305257 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Anderegg et al. (2019): "Whole genome sequencing of one [Alaskan Malamute] case and comparison to 601 control genomes identified a disease associated frameshift variant, c.43delA, in the NME5 gene encoding a sparsely characterized protein associated with ciliary function. . . . The genotypes at NME5:c.43delA showed the expected co-segregation with the phenotype in the Alaskan Malamute family. An…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

2019. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet — PubMed:PMID31479451 | DOI:10.1371/journal.pgen.1008378 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

OMIM:603575 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Alaskan Malamute — Ciliary dyskinesia, primary, NME5-related (hereditary; OMIA-verified breed predisposition)