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Medical genetics: An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

✍ Scribed by Kaori Sakai; Masashi Akiyama; Teruki Yanagi; Sheela Nampoothiri; Tony Mampilly; V Sunitha; Hiroshi Shimizu


Book ID
110879146
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
384 KB
Volume
49
Category
Article
ISSN
0011-9059

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Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi