title: Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
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.
authors.affiliation: Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.forename: Allesandro
authors.initials: A
authors.lastname: Terrinoni
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003062:Codon; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey; D014430:Twins, Monozygotic
chemical_list: D003062:Codon; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase