X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: No correlation between type of mutation and age of onset

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 116-119

  Wichers, Maria ^a   Köhler, Wolfgang ^b   Brennemann, Wolfgang ^a   Boese, Vera ^a   Sokolowski, Piotr ^b   Bidlingmaier, Frank ^a   Ludwig, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Department of Neurology   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

VERY LONG CHAIN FATTY ACID;

ADDISON DISEASE; ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CENTRAL NERVOUS SYSTEM; CHILD; CLINICAL ARTICLE; DISORDERS OF PEROXISOMAL FUNCTIONS; FATTY ACID OXIDATION; GENE MUTATION; GENOTYPE; HUMAN; ONSET AGE; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0344172647     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900090     Document Type: Article

References (27)

1. Berger J, Molzer B, Faé I, Bernheimer H (1994) X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 205:1638-1643
2. Braun A, Ambach H, Kammerer S, Rolinski B, Stockler S, Rabt W, Gärtner J, Zierz S, Roscher AA (1995) Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet 56:854-861
3. Braun A, Kammerer S, Ambach H, Roscher AA (1996) Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection. Hum Mutat 7:105-108
4. Brennemann W, Kohler W, Zierz S, Klingmuller D (1996) Occurrence of adrenocortical insufficiency in adrenomyeloneuropathy. Neurology 47:605
5. Cooper DN, Krawczak M (1993) Human gene mutation. BIOS, Oxford
6. Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A, Nelson DL, Mohrenweiser HW (1997) Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet 6:991-1002
7. Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P (1996) Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am J Hum Genet 58:1135-1144
8. Fuchs S, Sarde CO. Wedemann H, Schwinger E, Mandel JL, Gal A (1994) Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum Mol Genet 3: 1903-1905
9. Gärtner J, Moser H, Valle D (1992) Mutations in the 70 K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet 1:16-23
10. Gärtner J, Braun A, Holzinger A, Roerig P, Lenard HG, Roscher AA (1998) Clinical and genetic aspects of X-linked adrenoleukodystrophy. Neuropediatrics 29:3-13
11. Holzinger A, Kammerer S, Roscher AA (1997a) Primary structure of human PMP69, a putative peroxisomal ABC-transporter. Biochem Biophys Res Commun 237:152-157
12. Holzinger A, Kammerer S, Berger J, Roscher AA (1997b) cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDPR), a peroxisomal ABC transporter. Biochem Biophys Res Commun 239:261-264
13. Holzinger A, Maier E, Stöckler-Ipsiroglu S, Braun A, Roscher AA (1998) Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene. Clin Genet 53:482-487
14. Kamijo K, Taketani S, Yokota S, Osumi T, Hashimoto T (1990) The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily. J Biol Chem 265:4534-4540
15. Kemp S, Ligtenberg MJL, Van Geel BM, Barth PG, Wolterman RA, Schoute F, Sarde CO, Mandel JL, Van Oost BA, Bolhuis PA (1994) Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. Biochem Biophys Res Commun 202:647-653
16. Kemp S, Mooyer PAW, Bolhuis PA, Van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJA (1996) ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy. J Inherit Metab Dis 19:667-674
17. Kemp S, Wei HM, Lu JF, Braiterman LT, McGuiness MC, Moser AB, Watkins PA, Smith KD (1998) Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat Med 4:1261-1268
18. Krasemann, EW, Meier V, Korenke GC, Hunneman DH, Hanefeld F (1996) Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/ adrenomyeloneuropathy. Hum Genet 97:194-197
19. Kumar AJ, Köhler W, Kruse B, Naldu S, Bergin A, Edwin D, Moser HW (1995) MR findings in adult-onset adrenoleukodystrophy. Am J Neuroradiol 16:1227-1237
20. Lombard-Platet G, Savary S, Sarde CO, Mandel JL, Chimini G (1996) A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Proc Natl Acad Sci 93:1265-1269
21. Moser HW (1997) Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120:1485-1508
22. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361:726-730
23. Mosser J, Lutz Y, Stoeckel ME, Sarde CO, Kretz C, Douar AM, Lopez J, Aubourg P, Mandel JL (1994) The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein, Hum Mol Genet 3:265-271
24. Sarde CO, Mosser J, Kioschis P, Kretz C, Vicaire S, Aubourg P, Poustka A, Mandel JL (1994) Genomic organization of the adrenoleukodystrophy gene. Genomics 22:13-20
25. Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D (1997) Identification of a fourth half ABC transporter in the human peroxisomal membrane. Hum Mol Genet 6:1925-1931
26. Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD (1995) Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 57:292-301
27. Wilichowski E, Ohlenbusch A, Korenke GC, Hunneman DH, Hanefeld F (1998) Identical mitochondrial DNA in monozygotic twins with discordant adrenoleukodystrophy phenotype. Ann Neurol 43:835-836