Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

作者：Milh Mathieu^*; Pop Ana; Kanhai Warsha; Villeneuve Nathalie; Cano Aline; Struys Eduard A; Salomons Gajja S; Chabrol Brigitte; Jakobs Cornelis

来源：Molecular Genetics and Metabolism, 2012, 105(4): 684-686.

DOI：10.1016/j.ymgme.2012.01.011

• Genetics
• Pseudo-exon
• Pyridoxine-dependant epilepsy

We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a pseudoexon, and the minor transcript representing the authentic spliced transcript. In future, this mutation may be targeted with antisense-therapy aiming at exclusion of the pseudoexon.

• 出版日期2012-4