The Turkish Journal of Pediatrics 2012 , Vol 54 , Num 1
Sjögren-Larsson Syndrome: Report of Monozygote Twins and a Case with a Novel Mutation
1Department of Child Neurology, Gaziantep Children’s Hospital, Gaziantep, Turkey, 2IDI-IRCCS Laboratory, c/o Department of Experimental Medicine, University of Tor Vergata, Rome, Italy Yiş U, Terrinoni A. Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation. Turk J Pediatr 2012; 54: 64-66.

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. Keywords : Sjögren-Larsson syndrome, ichthyosis, ALDH3A2 gene.

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