Clinical and molecular aspects of Sjogren-Larsson syndrome reported in an iranian consanguineous family with triplet affected individuals

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. 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 [registered sign]. 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. 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