Peer-reviewed veterinary case report
Scaling skin linked to NIPAL4 gene defect in American Bulldogs
By Casal, Margret L et al.·Published in PloS one·2017·Department of Clinical Studies, United States·View original on PubMed →
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Original publication title: A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.
- Species:
- dog
Plain-English summary
A group of American Bulldogs was found to have a genetic defect linked to a skin condition called congenital ichthyosis, which causes dry, scaly skin and redness. Researchers identified a specific mutation in the NIPAL4 gene that leads to a faulty protein, resulting in the symptoms. About 34% of healthy American Bulldogs carried the gene variant, indicating it can be passed down without showing signs. Understanding this genetic issue may help develop better treatments for affected dogs in the future.
People also search for: American Bulldog skin problems · congenital ichthyosis in dogs · dog dry scaly skin treatment
Abstract
Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del), the 157th base (cytosine) in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin) protein of 248 amino acids instead of the wild-type length of 404. Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele. More importantly, the development of this canine model of autosomal recessive congenital ichthyosis will provide insight into the development of new treatments across species.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/28122049/