Clinical and molecular aspects of sjogren-larsson syndrome reported in an Iranian consanguineous family with triplet affected individuals

الملخص EN

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.