Mutation detection in an equivocal case of Friedreich's ataxia.
Compound heterozygosity at the Friedreich's ataxia locus accounts for approximately 2% of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of approximately 1,000 repeats on one allele and a novel initiation codon point mutation (3G-->A) on the other.
Developmental and Genetic Center, University of Tennessee Medical Center, Knoxville, Tennessee 37920, USA.
N T
NT
Potter
C A
CA
Miller
I J
IJ
Anderson
D000483:Alleles; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005621:Friedreich Ataxia / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D033862:Iron-Binding Proteins; D008297:Male; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000096923:Frataxin
D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin