Study from seven unrelated Egyptian pedigrees with Sjogren-Larsson syndrome revealed a novel pathogenic variant in the ALDH3A2 gene including one novel stop codon mutation; c.991G>T (p.E331X) and suggested a founder effect.
Phenotypic and mutational spectrum of thirty-five patients with Sjogren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
We have established a patient-centered database for pathogenic variants in the ALDH3A2 gene which contains both genotype information for individual patients as well as clinical data.
recruitment of the forkhead protein FOXH1 on open chromatin regions integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 Consistently H3K27me3 decrease is enriched on open chromatin around regulatory regions
Homozygous ALDH3A2 mutations exhibited an unusual neuro-regressive clinical course associated with seizures in Sjogren-Larsson syndrome patients which may reflect the presence of unidentified genetic or environmental modifiers in this consanguineous population.
Sjogren-Larsson syndrome belongs to a new group of inborn-errors-of-metabolism with inherited defects in phospholipids sphingolipids and fatty-acids biosynthesis. It is caused by ALDH3A2 gene mutations.
A previously unreported novel ALDH3A2 mutation was identified c.681-14T>G in a Sjogren-Larsson syndrome patient (homozygote) and his asymptomatic parents (heterozygotes).
variation in the neurologic phenotype of Sjogren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or a biochemical defect but by unidentified epigenetic/environmental factors gene modifiers or other mechanisms.
the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid
We studied three Turkish Sjogren-Larsson syndrome patients 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.
SLS is caused by mutation in the ALDH3A2 gene which encodes for FALDH an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes.
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.