A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations...

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Bibliographic Details
Published in:Annals of the Indian Academy of Neurology 2013-07, Vol.16 (3), p.425-427
Main Authors: Incecik, Faruk, Herguner, Ozlem, Rizzo, Wiliam, Altunbasak, Sakir
Format: Article
Language:English
Subjects:
Care and treatment
Case Report
Case studies
Diagnosis
Gene mutations
Ichthyosis
Identification and classification
mental retardation
mutation
Sjogren-Larsson syndrome
spastic diplegia
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Description
Summary:Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
ISSN:0972-2327
1998-3549
DOI:10.4103/0972-2327.116927