title: Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
abstract: Sjögren-Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long- chain aliphatic aldehydes fatty acids. We studied two unrelated Italian SLS patients with ichthyosis, developmental delay, spastic diplegia and brain white matter disease. One patient was homozygous for a novel ALDH3A2 insertion mutation (c.767insA) in exon 5. The other SLS patient was a compound heterozygote for two previously reported mutations: a slice site mutation (c.1094C > T; S365L) in exon 7. Analysis of fibroblast RNA by RT-PCR indicated that the spice-site mutation caused skipping of exons 2 and 3. The c.1094C > T mutation, previously associated with two ALDH3A2 haplotypes, was found on a third distinct haplotype in our patient, which indicates that arose independently in this kindred. These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease.
authors: I Dermatology Division, IDI-IRCCS, Via Monti di Creta, 104, Rome, Italy.
authors: Biagio
authors: B
authors: Didona
authors: Department of Experimental Medicine, IDI-IRCCS Biochemistry Laboratory, c/o University of Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors: Andrea
authors: A
authors: Codispoti
authors: Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesu Hospital, Rome, Italy.
authors: Enrico
authors: E
authors: Bertini
authors: University of Nebraska Medical Center, Omaha, NE, USA.
authors: Wiliam B
authors: WB
authors: Rizzo
authors: University of Nebraska Medical Center, Omaha, NE, USA.
authors: Gael
authors: G
authors: Carney
authors: Molecular Biology Laboratory, IDI-IRCCS, Via Monti di Creta, 104, Rome, Italy.
authors: Giovanna
authors: G
authors: Zambruno
authors: Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesu Hospital, Rome, Italy.
authors: Carlo
authors: C
authors: Dionisi-Vici
authors: VII Dermatology Division, IDI-IRCCS, Via Monti di Creta, 104, Rome, Italy.
authors: Mauro
authors: M
authors: Paradisi
authors: VII Dermatology Division, IDI-IRCCS, Via Monti di Creta, 104, Rome, Italy.
authors: Cristina
authors: C
authors: Pedicelli
authors: Department of Experimental Medicine, IDI-IRCCS Biochemistry Laboratory, c/o University of Tor Vergata, Via Montpellier 1, 00133, Rome, Italy. gerry.melino@uniroma2.it.|Medical Research Council, Toxicology Unit, Leicester University, Hodgkin Building, Lancaster Road, P.O. Box 138, Leicester, LE1 9HN, UK. gerry.melino@uniroma2.it.|Mondino-Tor Vergata Center for Experimental Neurobiology, University of Rome Tor Vergata, Rome, Italy. gerry.melino@uniroma2.it.
authors: Gerry
authors: G
authors: Melino
authors: Department of Experimental Medicine, IDI-IRCCS Biochemistry Laboratory, c/o University of Tor Vergata, Via Montpellier 1, 00133, Rome, Italy. alessandro.terrinoni@uniroma2.it.
authors: Alessandro
authors: A
authors: Terrinoni
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D016111:Sjogren-Larsson Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase