Identification of Compound Heterozygous Mutations in AP1B1 Leading to the Newly Described Recessive Keratitis–Ichthyosis–Deafness (KIDAR) Syndrome

The study identified compound heterozygous mutations in the AP1B1 gene as the cause of a newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome. The case involved a girl who developed ichthyosiform erythroderma, partial alopecia, and bilateral deafness, among other symptoms. Molecular analysis revealed a novel missense mutation and a frameshift mutation in AP1B1, leading to a complete loss of the protein in the epidermis. The findings expanded the understanding of AP1B1-related syndromes and highlighted the molecular consequences of these mutations, which included mRNA degradation and potential protein instability.