Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

Biagio Didona, Andrea Codispoti, Enrico Bertini, Wiliam B. Rizzo, Gael Carney, Giovanna Zambruno, Carlo Dionisi-Vici, Mauro Paradisi, Cristina Pedicelli, Gerry Melino, Alessandro Terrinoni

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Sjögren-Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes to fatty acids. We studied two unrelated Italian SLS patients with ichthyosis, developmental delay, spastic diplegia and brain white matter disease. One patient was homozygous for a novel ALDH3A2 insertion mutation (c.767insA) in exon 5. The other SLS patient was a compound heterozygote for two previously reported mutations: a splice-site mutation (c.471 + 2T > G) in intron 3 and a missense mutation (c.1094C > T; S365L) in exon 7. Analysis of fibroblast RNA by RT-PCR indicated that the splice-site mutation caused skipping of exons 2 and 3. The c.1094C > T mutation, previously associated with two ALDH3A2 haplotypes, was found on a third distinct haplotype in our patient, which indicates that it arose independently in this kindred. These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease.

Original languageEnglish (US)
Pages (from-to)865-870
Number of pages6
JournalJournal of Human Genetics
Issue number10
StatePublished - Oct 2007


  • Fatty alcohol
  • Fatty aldehyde
  • Ichthyosis
  • Leukotriene
  • Mental retardation
  • Mutation
  • Spastic diplegia
  • ω-Oxidation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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