Open AccessA Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Author(s) -
Faruk İncecik,
Özlem Hergüner,
William B. Rizzo,
Şakìr Altunbaşak
Publication year - 2013
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.116927
Subject(s) - congenital ichthyosis , spastic diplegia , medicine , exon , mutation , ichthyosis , genetics , dermatology , gene , biology , psychiatry , cerebral palsy
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.