Sjögren-Larsson syndrome: Report of monozygote twins and a case with a novel mutation

Uluç Yiş, Allesandro Terrinoni

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)64-66
Number of pages3
JournalTurkish Journal of Pediatrics
Volume54
Issue number1
Publication statusPublished - 2012

Keywords

  • ALDH3A2 gene
  • Ichthyosis
  • Sjögren-Larsson syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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