Doberman Pinscher — DINGS (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: Doberman Pinscher (Dog)
Disorder: DINGS
Mode of inheritance: Autosomal recessive
Summary: See also: [OMIA:002196-9615] : Deafness, unilateral and vestibular dysfunction, PTPRQ-related in Canis lupus familiaris (dog)
Defect: yes
Prevalence: Webb et al. (2019): Of 632 [unaffected Doberman Pinscher] dogs tested, none were homozygous. We found that 62 dogs were heterozygous for the mutation, suggesting an allele frequency of 4.9% (62/1224 chromosomes sampled) and a carrier frequency in the breed of nearly 10%.

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 388251254 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Analysis of sequence in the mapped region of an affected Doberman Pinscher enabled Webb et al. (2019) to identify a missence mutation in the MYO7A gene (c.3719G&>A; p.R1240Q) as the likely causal variant. All affected dogs were homozygous for this variant.

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.

1992. Congenital deafness and vestibular deficit in the Dobermann. Journal of Small Animal Practice — DOI:10.1111/j.1748-5827.1992.tb01120.x — OMIA Phene_Article / Article
2005. Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. Vet J — PubMed:PMID15727910 | DOI:10.1016/j.tvjl.2004.01.015 — OMIA Phene_Article / Article
2012. Canine deafness. Vet Clin North Am Small Anim Pract — PubMed:PMID23122177 | DOI:10.1016/j.cvsm.2012.08.010 — OMIA Phene_Article / Article
2019. A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Can J Vet Res — PubMed:PMID31097876 — OMIA Phene_Article / Article
2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:276900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:600060 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:601317 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:276903 (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."

Doberman Pinscher — DINGS (hereditary; OMIA-verified breed predisposition)