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. These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease.

Didona, B., Codispoti, A., Bertini, E., Rizzo, W.b., Carney, G., Zambruno, G., et al. (2007). Novel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome. JOURNAL OF HUMAN GENETICS, 52(10), 865-870 [10.1007/s10038-007-0180-z].

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome

MELINO, GENNARO;Terrinoni A.
2007-01-01

Abstract

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. These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore BIO/11
Settore BIO/12
English
Con Impact Factor ISI
ichthyosis; mental retardation; spastic diplegia; mutation; leukotriene; omega-oxidation; fatty aldehyde; fatty alcohol
Didona, B., Codispoti, A., Bertini, E., Rizzo, W.b., Carney, G., Zambruno, G., et al. (2007). Novel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome. JOURNAL OF HUMAN GENETICS, 52(10), 865-870 [10.1007/s10038-007-0180-z].
Didona, B; Codispoti, A; Bertini, E; Rizzo, Wb; Carney, G; Zambruno, G; Dionisi Vici, C; Paradisi, M; Pedicelli, C; Melino, G; Terrinoni, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/30422
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