Investigation of Inherited Causes of Sjogren-Larsson Syndrome Using Whole Exome Sequencing Method

Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. Because of these overlap symptoms, these syndromes are categorized as unknown and rare disease. High-through put technologies such as whole exome sequencing (WES) solved many of these unknown diseases.  In this study, we used WES and introduced a family with SLS from Sabzevar – Khorasane Razavi- Iran.

Using WES, we sequenced all exons and then analyzed the annotation file. We segregated variant in other family members to confirm the candidate gene using PCR and Sanger sequencing.

Our data showed that mutation in ALDH3A2 with c.943C>T pathogenic variant causes SLS syndrome in this family.

The advent of WES improve the ability of diagnosis in a huge number of syndromes with overlap symptoms. Nonetheless, most of syndromes do not have a specific treatment and recognizing the cause of syndromes help to families to screen during pregnancies.