Article
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Neurogenetics - 1 Oct 2020
Santoro Massimo, Perna Alessia, La Rosa Piergiorgio, Petrillo Sara, Piemonte Fiorella, Rossi Salvatore, Riso Vittorio, Nicoletti Tommaso Filippo, Modoni Anna, Pomponi Maria Grazia, Chiurazzi Pietro, Silvestri Gabriella
Abstract excerpt
Friedreich's ataxia (FRDA) is usually due to a homozygous GAA expansion in intron 1 of the frataxin (FXN) gene. Rarely, uncommon molecular rearrangements at the FXN locus can cause pitfalls in the molecular diagnosis of FRDA. Here we describe a family whose proband was affected by late-onset Friedreich's ataxia (LOFA); long-range PCR (LR-PCR) documented two small expanded GAA alleles both in the proband and in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.