Complete FXN Deletion in a Patient with Friedreich's Ataxia

Ans van den Ouweland, Rick van Minkelen, Galhana Somers - Bolman, Cokkie Wouters, C Becht-Noordermeer, WH (Wouter) Deelen, Marianne Manders, EPF Ippel, Jasper Saris, Dicky Halley

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Abstract

Aims: Most patients (98%) with Friedreich's ataxia (FRDA) are homozygous for the GAA repeat expansion in FXN. Only a few compound heterozygous patients with an expanded repeat on one allele and a point mutation or an intragenic FXN deletion on the other allele are described. In a minority of the patients only a heterozygous pattern of the repeat expansion can be detected. Using array analysis after GAA repeat expansion testing, we identified a FRDA patient who is compound heterozygous for an expanded GAA repeat and a complete FXN deletion. Since not only repeat expansions and point mutations, but also large rearrangements can be the underlying cause of FRDA, a quantitative test should also be performed in case a patient shows only one allele with an expanded GAA repeat in FXN.
Original languageUndefined/Unknown
Pages (from-to)1015-1018
Number of pages4
JournalGenetic Testing and Molecular Biomarkers
Volume16
Issue number9
DOIs
Publication statusPublished - 2012

Research programs

  • EMC MGC-02-96-01

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