Labrador Retriever — Paw pad hyperkeratosis, GJB6-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: Labrador Retriever (Dog)Disorder:Mode of inheritance: Probably autosomal dominantClin feat: Rietmann et al. (2026) reported At approximately 18 months old, the patient was presented to a veterinarian due to an abnormal growth on one of her outer toes. Upon further examination by a veterinarian, excessive skin growth was observed present on all four paw pads and most of the digital pads to some degree. Rietmann et al. (2026) also reported At age approximately 16 months, the owner noticed a decreased or inappropriate reaction to commands or verbal clues and expressed suspicion that the patient may have deafness or impaired hearing function. No further investigation was pursued and to this date no clear diagnosis was made.Defect: yesPathology: Histological examination revealed a stratum corneum expanded by diffuse moderate to severe orthokeratotic and occasional mild parakeratotic hyperkeratosis arranged in spires or villous-like projections. The epidermis was mildly hyperplastic, and there were small numbers of perivascular lymphocytes, plasma cells, and mast cells in the superficial dermis. (Rietmann et al. 2026).
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 398299086 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Rietmann et al. (2026) sequenced the whole genome of an affected Labrador Retriever. Comparison of the whole genome sequencing data to 1664 unaffected control dogs revealed 12 private protein changing variants. Only one of them resided in one of 68 known functional candidate genes that were considered. This was a private <em>de novo</em> heterozygous missense variant in the <em>GJB6</em> gene, whi…
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.
- 2026. GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. Anim Genet — PubMed:PMID41601192 | DOI:10.1002/age.70075 — OMIA Phene_Article / Article
- 2013. Hearing is normal without connexin30. J Neurosci — PubMed:PMID23303923 | DOI:10.1523/JNEUROSCI.4240-12.2013 — OMIA Phene_Article / Article
- 2026. Correction to "GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis". Anim Genet — PubMed:PMID41707051 | DOI:10.1002/age.70079 — 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:604418 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:129500 (type: trait) — 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."