Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 3  |  Page : 425-427

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


1 Department of Pediatric Neurology, Cukurova University Medical Faculty, Adana, Turkey
2 Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA

Correspondence Address:
Faruk Incecik
Toros Mah, Baris Manco Bul, Yesilparkevleri, A Blok, Kat 7/13, Adana
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.116927

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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.


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