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
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Cossée M, Dürr A, Schmitt M et al (1999) Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45:200–206
Koeppen AH, Michael SC, Knutson MD et al (2007) The dentate nucleus in Friedreich’s ataxia: the role of iron-responsive proteins. Acta Neuropathol 114(2):163–173
De Biase I, Rasmussen A, Endres D et al (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich’s ataxia patients. Ann Neurol 61(1):55–60
Campuzano V, Montermini L, Lutz Y et al (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Gen 6(11):1771–1780
Filla A, De Michele G, Cavalcanti F et al (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59(3):554–560
Santoro L, De Michele G, Perretti A et al (1999) Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxia. J Neurol Neurosurg Psychiatry 66(1):93–96
Bit-Avragim N, Perrot A, Schöls L et al (2001) The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich’s ataxia. J Mol Med (Berl) 78(11):626–632
Heidenfelder BL, Makhov AM, Topal MD (2003) Hairpin formation in Friedreich’s ataxia triplet repeat expansion. J Biol Chem 278(4):2425–2431
Gadgil R, Barthelemy J, Lewis T, Leffak M (2017) Replication stalling and DNA microsatellite instability. Biophys Chem 225:38–48. https://doi.org/10.1016/j.bpc.2016.11.007
Montermini L, Andermann E, Labuda M et al (1997) The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 6(8):1261–1266
Sharma R, De Biase I, Gómez M et al (2004) Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol 56(6):898–901
Lazaropoulos M, Dong Y, Clark E et al (2015) Frataxin levels in peripheral tissue in Friedreich ataxia. Ann Clin Transl Neurol 2(8):831–842. https://doi.org/10.1002/acn3.225
Long A, Napierala JS, Polak U et al (2017) Somatic instability of the expanded GAA repeats in Friedreich’s ataxia. PLoS One 12(12):e0189990. https://doi.org/10.1371/journal.pone.0189990
McGinty RJ, Puleo F, Aksenova AY et al (2017) A defective mRNA cleavage and polyadenylation complex facilitates expansions of transcribed (GAA)n repeats associated with Friedreich’s ataxia. Cell Rep 20(10):2490–2500. https://doi.org/10.1016/j.celrep.2017.08.051
Castaldo I, Pinelli M, Monticelli A et al (2008) DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet 45(12):808–812. https://doi.org/10.1136/jmg.2008.058594
Evans-Galea MV, Carrodus N, Rowley SM et al (2012) FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol 71(4):487–497. https://doi.org/10.1002/ana.22671
Holloway TP, Rowley SM, Delatycki MB, Sarsero JP (2011) Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. Biotechniques 50(3):182–186. https://doi.org/10.2144/000113615
Al-Mahdawi S, Ging H, Bayot A et al (2018) Large interruptions of GAA repeat expansion mutations in Friedreich ataxia are very rare. Front Cell Neurosci 12:443. https://doi.org/10.3389/fncel.2018.00443
Cossée M, Schmitt M, Campuzano V et al (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 94(14):7452–7457
Montermini L, Richter A, Morgan K et al (1997) Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41(5):675–682
McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH (2001) Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich’s ataxia. Mov Disord 16(6):1153–1158
Ohshima K, Sakamoto N, Labuda M et al (1999) A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis. Neurology 53(8):1854–1857
Stolle CA, Frackelton EC, McCallum J et al (2008) Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Mov Disord 23(9):1303–1306. https://doi.org/10.1002/mds.22012
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K (2007) Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res 35(10):3383–3390
Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF (2008) Lateral-flow immunoassay for the frataxin protein in Friedreich’s ataxia patients and carriers. Mol Genet Metab 94(4):491–497. https://doi.org/10.1016/j.ymgme.2008.03.019
Barcia G, Rachid M, Magen M et al (2018) Pitfalls in molecular diagnosis of Friedreich ataxia. Eur J Med Genet 61(8):455–458. https://doi.org/10.1016/j.ejmg.2018.03.004
Sakamoto N, Ohshima K, Montermini L, Pandolfo M, Wells RD (2001) Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J Biol Chem 276(29):27171–27177
Polak U, Li Y, Butler JS, Napierala M (2016) Alleviating GAA repeat induced transcriptional silencing of the Friedreich’s ataxia gene during somatic cell reprogramming. Stem Cells Dev 25(23):1788–1800
Santoro M, Fontana L, Masciullo M et al (2015) Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1). Biochim Biophys Acta 1852(12):2645–2652. https://doi.org/10.1016/j.bbadis.2015.09.007
Santoro M, Masciullo M, Pietrobono R et al (2013) Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions. J Neurol 260(5):1245–1257. https://doi.org/10.1007/s00415-012-6779-9