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


İNCECİK F. , HERGUNER O. M. , RIZZO W. B. , ALTUNBAŞAK Ş.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.16, sa.3, ss.425-427, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Konu: 3
  • Basım Tarihi: 2013
  • Doi Numarası: 10.4103/0972-2327.116927
  • Dergi Adı: ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Sayfa Sayıları: ss.425-427

Özet

Sjogren-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.