A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Faruk Incecik, Ozlem M. Herguner, William B Rizzo, Sakir Altunbasak

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.

Original languageEnglish (US)
Pages (from-to)425-427
Number of pages3
JournalAnnals of Indian Academy of Neurology
Volume16
Issue number3
DOIs
Publication statusPublished - Jul 1 2013

    Fingerprint

Keywords

  • Ichthyosis
  • mental retardation
  • mutation
  • spastic diplegia

ASJC Scopus subject areas

  • Clinical Neurology

Cite this