Research from Tor Vergata University in the area of cerebral palsy described
2008 JAN 18 -- According to recent research from Rome, Italy, "Sjogren-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 to 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 splice-site mutation (c.471 + 2T > G) in intron 3 and a missense mutation (c.1094C > T; S365L) in exon 7. Analysis of fibroblast RNA by RT-PCR indicated that the splice-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 it arose independently in this kindred," wrote B. Didona and colleagues, Tor Vergata University. The researchers concluded: "These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease." Didona and colleagues published their study in the Journal of Human Genetics (Novel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome. Journal of Human Genetics, 2007;52(10):865-870). For additional information, contact G. Melino, Roma Tor Vergata University, Biochemistry Laboratory, IRCCS, IDI, Dept. of Experimental Medical, Via Montpellier 1, I-00133 Rome, Italy. Publisher contact information for the Journal of Human Genetics is: Springer Tokyo, 3-3-13, Hongo, Bunkyo-Ku, Tokyo, 113-0033, Japan. Keywords: Italy, Rome, Cerebral Palsy, Dehydrogenase, Dermatology, Developmental Disabilities, Enzyme Research, Genetics, Ichthyosis, Mental Retardation, Sjogren Syndrome, White-matter Disease, Tor Vergata University. This article was prepared by Genomics & Genetics Weekly editors from staff and other reports. Copyright 2008, Genomics & Genetics Weekly via NewsRx.com.
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