In other species: sheep , domestic cat , cattle , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131705 , 131750 , 131950 , 132000 , 226500 , 226600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2003

Cross-species summary: Blisters on the outer layer of skin.

Species-specific name: Recessive dystrophic epidermolysis bullosa (RDEB)

History: The Golden Retriever colony of affected dogs was first described by Palazzi et al. (2000).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Baldeschi et al. (2003) showed that the molecular basis of this disorder in a family of Golden Retrievers is a missense mutation (5716G>A) in the COL7A1 gene, resulting in a G1906S amino-acid substitution.

Niskanen et al. (2017) reported a likely causal variant in Central Asian Shepherd dogs as a nonsense mutation in COL7A1, namely c.4579C>T, p.R1527*.

Garcia et al. (2020) "investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa" and "found a candidate causative variant in COL7A1 ... . The variant is a complex rearrangement involving duplication of a 107 bp region harboring a frameshift deletion of 7 bp. The variant is predicted to truncate more than 75% of the open reading frame, p.(Val677Serfs*11)."

Breeds: Basset Hound, Central Asian Shepherd, Golden Retriever.

Associated gene: