Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
Campuzano
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Department de Genetica, University of Valencia, Spain.
Montermini
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Moltò
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Pianese
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Cossée
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Cavalcanti
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Monros
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Rodius
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Duclos
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Monticelli
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Zara
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Cañizares
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Koutnikova
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Bidichandani
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Gellera
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Brice
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Trouillas
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De Michele
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Filla
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De Frutos
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Palau
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Patel
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Di Donato
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Mandel
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Cocozza
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Koenig
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Pandolfo
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D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D018911:Trinucleotide Repeats; D000096923:Frataxin
D017931:DNA Primers; D033862:Iron-Binding Proteins; D011506:Proteins; D000096923:Frataxin