Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity

Neurogenetics

Volumn 3, Issue 3, 2001, Pages 127-132

  Christodoulou, Kyproula ^a   Deymeer, Feza ^b   Serdaroǧlu, Piraye ^b   Özdemir, Coşkun ^b   Poda, Mehveş ^b   Georgiou, Domna Maria ^a   Ioannou, Panos ^c   Tsingis, Marios ^a   Zamba, Eleni ^a   Middleton, Lefkos T ^a,d  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b ISTANBUL UNIVERSITY   (Turkey)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d GLAXOSMITHKLINE   (United Kingdom)

Author keywords

Chromosome 9p23 p11; FRDA2; Friedreich's ataxia; Genetic heterogeneity

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 9; CHROMOSOME MAP; CONSANGUINITY; FEMALE; FRIEDREICH ATAXIA; GENETICS; HAPLOTYPE; HUMAN; MALE; PEDIGREE; PHENOTYPE; TRINUCLEOTIDE REPEAT;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; CONSANGUINITY; FEMALE; FRIEDREICH ATAXIA; HAPLOTYPES; HUMANS; MALE; PEDIGREE; PHENOTYPE; TRINUCLEOTIDE REPEATS;

EID: 18044403702     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480100112     Document Type: Article

References (32)

1. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP (1976) Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3:279-286
2. 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
3. Klockgether T, Chamberlain S, Wullner U, Fetter M, Dittmann H, Petersen D, Dichgans J (1993) Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 50:803-806
4. Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monros E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, Filla A (1995) Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 37:359-62
5. Barbeau A, Roy M, Sadibelouiz M, Wilensky MA (1984) Recessive ataxia in Acadians and "Cajuns". Can J Neurol Sci 11 [Suppl]:526-533
6. Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melancon SB (1996) Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes. Am J Med Genet 64:594-601
7. Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, Von Gabain A, Farrall M, Williamson R (1988) Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334:248-250
8. Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik KH, Nakamura Y, Mandel JL, Hanauer A (1989) Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 4:110-111
9. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares 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
10. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Durr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6:1771-1780
11. Babcock M, De Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J (1997) Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276:1709-1712
12. Lamarche JB, Cote M, Lemieux B (1980) The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can J Neurol Sci 7:389-396
13. Rotig A, Lonlay P de, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17:215-217
14. Durr A, Cossee 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
15. 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
16. Bidichandani SI, Ashizawa T, Patel PI (1997) Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 60:1251-1256
17. Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 94:7452-7457
18. Forrest SM, Knight M, Delatycki MB, Paris D, Williamson R, King J, Yeung L, Nassif N, Nicholson GA (1998) The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics 1:253-257
19. Ben Hamida M, Belal S, Sirugo G, Ben Hamida C, Panayides K, Ionannou P, Beckmann J, Mandel JL, Hentati F, Koenig M, Middleton L (1993) Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology 43:2179-2183
20. Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, Pandolfo M, Mokini V, Novelli G, Hentati F, Ben Hamida M, Mandel JL, Koenig M (1993) Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 5:195-200
21. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 9:141-145
22. Kostrzewa M, Klockgether T, Damian MS, Muller U (1997) Locus heterogeneity in Friedreich ataxia. Neurogenetics 1:43-47
23. Geschwind DH, Perlman S, Grody WW, Telatar M, Montermini L, Pandolfo M, Gatti RA (1997) Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. Neurology 49:1004-1009
24. Carvajal JJ, Pook MA, Dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S (1996) The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nat Genet 14:157-162
25. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
26. Weber JL, May PE (1990) Dinucleotide repeat polymorphism at the D9S43 locus. Nucleic Acids Res 18:2203
27. Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Brice A, Durr A, Mignard C, Sirugo G, Weissenbach J, Cohen D, Hentati F, Ben Hamida M, Mandel JL, Koenig M (1994) Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. Am J Hum Genet 54:1050-1059
28. Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, Ioannou P, Pierides A, Constantinou-Deltas C (1998) Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 7:905-911
29. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
30. Robinson MA, Mitchell MP, Wei S, Day CE, Zhao TM, Concannon P (1993) Organization of human T-cell receptor beta-chain genes: clusters of V beta genes are present on chromosomes 7 and 9. Proc Natl Acad Sci USA 90:2433-2437
31. Hentze MW, Seuanez HN, O'Brien SJ, Harford JB, Klausner RD (1989) Chromosomal localisation of nucleic acid-binding proteins by affinity mapping: assignment of the IRE- binding protein gene to human chromosome 9. Nucleic Acids Res 17:6103-6108
32. Hentze MW, Kuhn LC (1996) Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci U S A 93:8175-8182