Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene

Human Genetics
C EpplenL Schöls

Abstract

Friedreich ataxia (FA) is an autosomal recessive, neurodegenerative disorder characterized by polypurine trinucleotide expansion. The (GAA)n motif is located in intron 18 of the STM7 gene (previously considered as intron 1 of the X25 gene) on chromosome 9q13. We studied the distribution profile of the polymorphic (GAA)n repetitive tract in 178 healthy individuals. The number of repeats of the trinucleotide block ranged from 7 to 29. In three individuals there were more than 29 repetitions of the GAA motif. While two of the individuals would be diagnosed as carriers of the FA mutation (GAA size > 90), the status of the third person, with a (GAA)58 tract, appears less clear at present. Thus an FA carrier rate of 1/60 to 1/90 can be assumed for the German population. In addition an intermediate-sized allele, (GAA)38 was identified in a mother with two affected children. The (GAA)38 allele appears to be expanded during transmission to at least (GAA)66 and (GAA) > 400 in her two FA-affected offspring. Therefore the shortest known STM7 allele conferring FA is (GAA)66. These novel facts have to be considered for differential diagnosis and definition of the FA carrier state.

Citations

Aug 1, 1997·Electrophoresis·C EpplenJ T Epplen
Jan 8, 2003·The Journal of Gene Medicine·Joseph P SarseroPanos A Ioannou
Dec 3, 2009·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·C DaiouGeorgios M Hadjigeorgiou
Sep 21, 2000·Revista de neurologia·V L Ruggieri, C L Arberas
Sep 15, 1998·Trends in Neurosciences·T Klockgether, B Evert
Feb 7, 1998·Current Opinion in Neurobiology·M Koenig, J L Mandel
Jul 19, 2000·Neuromuscular Disorders : NMD·M VorgerdJ Zange
Jul 10, 2003·Lancet Neurology·Alexandra Dürr
Apr 21, 2004·The Journal of Molecular Diagnostics : JMD·Claudia CagnoliAlfredo Brusco
Oct 28, 2004·The Journal of Molecular Diagnostics : JMD·Paola CiottiPaola Mandich
Apr 7, 2009·Nature Reviews. Neurology·Jörg B SchulzMassimo Pandolfo
Oct 2, 2002·Journal of Biomolecular Structure & Dynamics·Chitra ChauhanMitali Mukerji
May 9, 2006·Antioxidants & Redox Signaling·Raffaele LodiAnthony H V Schapira
Feb 17, 2010·Antioxidants & Redox Signaling·Renata SantosEmmanuel Lesuisse
Sep 16, 1998·Human Molecular Genetics·G StevaninA Brice
Aug 5, 2009·Molecular Biology and Evolution·Tatsuaki KurosakiShintaroh Ueda
Nov 10, 2004·Nucleic Acids Research·Laura M PollardSanjay I Bidichandani
Jan 14, 2000·Journal of Medical Genetics·M B DelatyckiS M Forrest
Jul 6, 2012·Journal of Child Neurology·R Mark Payne, Gregory R Wagner
Nov 14, 2013·The Cerebellum·W IlgD Timmann
Jan 18, 2006·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Scott KraftOksana Suchowersky
Apr 29, 2006·The International Journal of Neuroscience·M Bertan YilmazDilara Süleymanova
Oct 20, 2010·Expert Opinion on Drug Metabolism & Toxicology·Claudia BeckerJuergen Drewe
Nov 25, 2004·Annals of Neurology·Rajesh SharmaSanjay I Bidichandani
Jul 3, 2003·Annals of Neurology·Ludger SchölsOlaf Riess
May 19, 2001·Mayo Clinic Proceedings·L H TravisJ H Bower
Jul 21, 2011·Journal of Molecular and Cellular Cardiology·Matthew KellyChristopher Semsarian
Jun 22, 2011·Progress in Pediatric Cardiology·R Mark Payne
May 12, 2000·Mayo Clinic Proceedings·V G EvidenteS Gilman
Sep 1, 2009·Chemistry : a European Journal·Hanping HeKazuhiko Nakatani
Jan 9, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Edward J WildSarah J Tabrizi
Feb 12, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Sylvia BoeschKaren Manicom
Jul 16, 2013·The Biochemical Journal·Darius J R LaneDes R Richardson
Aug 20, 2008·Expert Opinion on Pharmacotherapy·Caterina Tonon, Raffaele Lodi
Aug 16, 2001·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·A KiddN E Haites

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