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

YİŞ U., Terrinoni A.

Turkish Journal of Pediatrics, cilt.54, sa.1, ss.64-66, 2012 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 54 Sayı: 1
  • Basım Tarihi: 2012
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.64-66
  • Anahtar Kelimeler: Sjogren-Larsson syndrome, ichthyosis, ALDH3A2 gene
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.