ArticlePloS one2017
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 26 citations in OpenAlex.
- ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.Veterinary dermatology · 2026Article
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
- Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.Veterinary sciences · 2022Review
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.G3 (Bethesda, Md.) · 2022Article
- Article
- A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.Molecular genetics and genomics : MGG · 2021Article
- Article
- NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy.Veterinary medicine and science · 2019Article
- Ichthyosis molecular fingerprinting shows profound TThe Journal of allergy and clinical immunology · 2019Article
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.The American journal of pathology · 2018Article
- Canine and Feline Models of Human Genetic Diseases and Their Contributions to Advancing Clinical Therapies .The Yale journal of biology and medicine · 2017Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
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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Registered trials
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