Mode of inheritance This rare syndrome is associated with an autosomal recessive mode of inheritance. The parents are classified as heterozygote carriers of the disease and the chance that the offspring will be affected is 25%. Both parents need to have the mutant allele in order to pass on the disease to their offspring and the offspring need to inherit both mutant alleles in order to express the disorder. an autosomal recessive pattern. Genetic cause<unk>  is caused by a number of mutations at different loci of the FATP4 gene. One nonsense mutation and a number of missense mutation in the FATP4 (SLC27A4) gene which codes for the fatty acid transport protein 4 are associated with<unk> . Splice site mutations have also been linked to<unk> . When the splice site between exons and introns is mutated, it leads to a deletion or duplication event which would change the stability or soundness of the protein the RNA is coding for. When a mutation is present in the gene coding for this protein, the protein product is not stable or able to perform its role. As a result, the pathway it is involved in is compromised and a diseased phenotype is often noted. In this particular case the fatty acid transport protein 4 is deformed due to the presence of mutations in the FATP4 gene and an interference occurs in the lipid metabolic pathway in the skin that this protein is involved with. This results in the abnormal formation of epidermal skin cells and a compromised formation and maintenance of an epidermal barrier. These underlying genetic causes explain the symptoms of the flaky, dry, cutaneous skin phenotype expressed.<unk>  genes segregate independently of the already known general ARCI locus. As a result,<unk>  has been identified to have its own gene locus making it easier to diagnose.
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