2004
DOI: 10.1038/sj.ejhg.5201257
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Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

Abstract: Friedreich's ataxia (FRDA), the most common autosomal recessively inherited ataxia, is due to a homozygous GAA triplet repeat expansion in the first intron of the FRDA gene in about 96% of patients. Approximately 4% of FRDA patients are compound heterozygotes with a GAA repeat expansion in one allele and a point mutation in the coding region of the second allele. To reinvestigate the mutation spectrum, we searched for mutations including exon deletions in six patients heterozygous for the GAA repeat expansion … Show more

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Cited by 39 publications
(36 citation statements)
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“…FRDA G130V patients also have significantly lower occurrence of cardiomyopathy, scoliosis, and diabetes, and they surpass other point mutation carrying subjects on composite performance measures. As suggested in single cases previously, this demonstrates that FRDA patients with FXN G130V demonstrate greater neurological function and decreased disease severity at a similar length of disease duration 8, 10, 11, 15, 23, 24, 25, 26, 27, 28, 29. Patients with I154F mutations have clinical severities intermediate between other patients with point mutations and G130V patients, matching the data from cellular models of the molecular consequences of these mutants.…”
Section: Discussionsupporting
confidence: 84%
“…FRDA G130V patients also have significantly lower occurrence of cardiomyopathy, scoliosis, and diabetes, and they surpass other point mutation carrying subjects on composite performance measures. As suggested in single cases previously, this demonstrates that FRDA patients with FXN G130V demonstrate greater neurological function and decreased disease severity at a similar length of disease duration 8, 10, 11, 15, 23, 24, 25, 26, 27, 28, 29. Patients with I154F mutations have clinical severities intermediate between other patients with point mutations and G130V patients, matching the data from cellular models of the molecular consequences of these mutants.…”
Section: Discussionsupporting
confidence: 84%
“…In this and other "null" mutations, transcription of the expanded allele may be expected to generate normal frataxin, though at an insufficient amount (2,4). The deletion of exon 5 in the compound heterozygous FA case 2 is similar to that in a previously reported heterozygous FA patient (14). This patient, a 21-year-old woman, had 820 GAA trinucleotide repeats and deletion of exon 5a.…”
Section: Frataxin Deficiency As the Common Denominator In The Pathogesupporting
confidence: 48%
“…FRDA-associated Yfh1 N122K Is Defective in Interaction with Isu-The point mutation N146K has been identified in one FRDA patient (27). We constructed the corresponding mutation in YFH1, yfh1 N122K .…”
Section: Defect In Yfh1 122-4 -Isu Interaction In Vitro-mentioning
confidence: 99%