Sjögren-Larsson syndrome: Report of monozygote twins and a case with a novel mutation
Turkish Journal of Pediatrics, vol.54, no.1, pp.64-66, 2012 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 54 Issue: 1
- Publication Date: 2012
- Journal Name: Turkish Journal of Pediatrics
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.64-66
- Keywords: Sjogren-Larsson syndrome, ichthyosis, ALDH3A2 gene
- Dokuz Eylül University Affiliated: Yes
Abstract
Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes fatty acids. We studied three Turkish Sjögren-Larsson syndrome patients with ichthyosis, developmental delay, spastic diplegia, and brain white matter disease. One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC, leading to the substitution of the original arginine with a histidine (R228H), modifying the stereospecific properties of this region. These results add to the understanding of the genetic basis of Sjögren-Larsson syndrome and will be useful for DNA diagnosis of this disease.