Abstract
Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized
by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the
fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene. In this study, we screened a French cohort of patients with Sjögren–Larsson
syndrome (SLS) for mutations in the ALDH3A2 gene. The five unrelated patients with typical SLS all present mutations in this
gene. Three novel mutations were identified whereas three other ones were previously
described. We also realized functional analyses at the mRNA level for two splice site
mutations to study their deleterious consequences. Two of the previously described
mutations had already been identified in the same region of Europe, suggesting a putative
founder effect. We suggest that, (1) when clinical and MR features are present, direct
sequencing of the ALDH3A2 gene in SLS is of particular interest without necessity of a skin biopsy for enzymatic
assay in order to propose genetic counsel and (2) identification of mutations already
described in the same population with putative founder effects may simplify genetic
analysis in this context.
Keywords
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Article info
Publication history
Published online: August 29, 2011
Accepted:
August 4,
2011
Received in revised form:
August 3,
2011
Received:
June 9,
2011
Identification
Copyright
© 2011 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
