Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals

Background: Sjogren Larsson Syndrome (SLS; OMIM: 270200) is an autosomal recessive neurocutaneous disorder characterized by mental retardation, congenital ichthyosis and spastic paraplegia. SLS is caused by mutations in aldehyde dehydrogenase 3A2 isoform 2 (ALDH3A2), which encodes fatty aldehyde dehydrogenase (FALDH). This enzyme metabolizes the NAD-dependent oxidation of long chain aldehyde derived from lipid metabolism. Up to now, more than 72 mutations have been reported in SLS patients. Methods: DNA was extracted from peripheral blood of all the five patients, one healthy sibling and their parents using standard procedures. SNP genotyping was performed using the GeneChip®. Multipoint linkage analyses and non-parametric linkage analysis was performed too. Results: Here, we report an interesting family with five affected individuals with a novel splice site mutation (c.1107+1delGTA) in ALDH3A2. Conclusion: In absence of capability to measure FALDH activity in Iran, DNA sequencing of the ALDH3A2 gene could lead to the identification of causative mutation and confirm the diagnosis.