Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
Turk J Pediatr
; 54(1): 64-6, 2012.
Article
en En
| MEDLINE
| ID: mdl-22397046
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.
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Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Sjögren-Larsson
/
Aldehído Oxidorreductasas
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Año:
2012
Tipo del documento:
Article