Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

American Journal of Medical Genetics

Volumn 79, Issue 5, 1998, Pages 396-399

  Bartolo, Claire ^a   Mendell, Jerry R ^a   Prior, Thomas W ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b 121 Hamilton Hall ^*  (United States)

Author keywords

Carrier study; Compound heterozygote; Friedreich's ataxia; Missense mutation; Triplet repeat

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA DETERMINATION; FEMALE; FRIEDREICH ATAXIA; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE REPEAT; POINT MUTATION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ADULT; BLOTTING, SOUTHERN; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRIEDREICH ATAXIA; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; PEDIGREE; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 0032511744     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981012)79:5<396::AID-AJMG13>3.0.CO;2-M     Document Type: Article

References (10)

1. Bidichandani SI, Ashizawa T, Patel PI (1998): The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62: 111-121.
2. Bidichandani SI, Ashizawa T, Patel PI (1997): Atypical Friedreich ataxia caused by homozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 60:1201-1256.
3. Campuzano V, Montermini L, Moltè MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996): Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427.
4. Dürr A, Cossée M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996): Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335:1169-1175.
5. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996): The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59:554-560.
6. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JB (1976): Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3:279-286.
7. Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P (1996): Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction. TINS 19:465-468.
8. Harding AE (1981): Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589-620.
9. Harding AE (1993): Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14.
10. Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M (1997): Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion. Ann Neurol 41:675-682.