The mutated gene is involved in the skin barrier lipid metabolism, its dysfunction leads to an abnormal desquamation
Symptoms Overabundance of large-sized dandruffs whitish then blackish, mainly on the trunk and particularly visible on the belly. In the worst forms, complications (bacterial, fungal or parasitic) are observed.
Gene involved NIPAL4
Mutation tested g.52737379delC
Transmission mode : Autosomal recessive
Publication : Casal et al. (2017). A defect in NIPAL4 is associated with autosomal recessive congenital ichthyosis in American Bulldogs.
Gene involved PNPLA1
Mutation tested Indel dans l'exon 8
Transmission mode : Autosomal recessive
Publication : Grall et al. (2012). PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Gene involved SLC27A4
Mutation tested g.8684G>A
Transmission mode : Autosomal recessive
Publication : Metzger et al. (2015). A novel SLC27A4 splice acceptor site mutation in Great Danes with ichthyosis.