Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene

Clinical Genetics

Volumn 53, Issue 6, 1998, Pages 482-487

  Holzinger, Andreas ^a   Maier, Esther ^a   Stöckler Ipsiroglu, Sylvia ^b   Braun, Andreas ^a   Roscher, Adelbert A ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF VIENNA   (Austria)

Author keywords

ALD protein; Exon 10; Novel mutation

Indexed keywords

ABC TRANSPORTER; MESSENGER RNA; MONOCLONAL ANTIBODY; PROTEIN;

ADRENAL CORTEX INSUFFICIENCY; ADRENOLEUKODYSTROPHY; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; EXON; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0031843934     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02600.x     Document Type: Article

References (29)

1. Moser H, Smith K, Moser AB. X-linked Adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 2325-2349.
2. Barcelo A, Giros M, Albiach VJ, Vaquerizo J, Pampols T, Estivill X. Identification of two new nonsense mutations (Q311X and W326X) in exon 2 of the adrenoleukodystrophy (ALD) gene. Hum Mutat 1996: 8: 286-287.
3. Barcelo A, Giros M, Sarde CO, Pintos G, Mandel JL, Pampols T, Estivill X. De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy gene. Hum Genet 1995: 95: 235-237.
4. Berger J, Molzer B, Fae I, Bernheimer H. 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 1994: 205: 1638-1643.
5. Braun A, Ambach H, Kammerer S, Rolinski B, Stockler S, Rabl W, Gartner J, Zierz S, Roscher AA. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet 1995: 56: 854-861.
6. Dodd A, Rowland SA, Hawkes SL, Kennedy MA, Love DR. Mutations in the adrenoleukodystrophy gene. Hum Mutat 1997: 9: 500-511.
7. Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 1994: 94: 516-520.
8. Feigenbaum V, Lombard Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am J Hum Genet 1996: 58: 1135-1144.
9. Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum Mol Genet 1994: 3: 1903-1905.
10. Imamura A, Suzuki Y, Song XQ, Fukao T, Uchiyama A, Shimozawa N, Kamijo K, Hashimoto T, Orii T, Kondo N. Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients. Clin Genet 1997: 51: 322-325.
11. Jorge P, Brites P, Nogueira A, Aubourg P. Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient. Ann NY Acad Sci 1996: 804: 756-759.
12. Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA. Two intronic mutations in the adrenoleukodystrophy gene. Hum Mutat 1995: 6: 272-273.
13. Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJ. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy. J Inherit Metab Dis 1996: 19: 667-674.
14. Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G et al. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutat 1995: 6: 104-115.
15. Krasemann EW, Meier V, Korenke GC, Hunneman DH, Hanefeld F. Identification of mutations in the ALD gene of 20 families with adrenoleukodystrophy adrenomyeloneuropathy. Hum Genet 1996: 97: 194-197.
16. Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA. Spectrum of mutations in the gene encoding the adrenoleukodystrophy. Am J Hum Genet 1995: 56: 44-50.
17. Song XQ, Fukao T, Suzuki Y, Imamura A, Uchiyama A, Shimozawa N, Kondo N, Orii T. Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient. Hum Mol Genet 1995: 4: 1093-1094.
18. Ueyama H, Yamano T, Shimada M, Ohkubo I. Novel missense and frameshift mutations in the adrenoleukodystrophy gene. Jpn J Hum Genet 1996: 41: 407-411.
19. Vorgerd M, Fuchs S, Tegenthoff M, Malin JP. A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene. J Neurol Neurosurg Psychiatry 1995: 58: 229-231.
20. Yasutake T, Yamada T, Furuya H, Shinnoh N, Goto I, Kobayashi T. Molecular analysis of X-linked adrenoleukodystrophy patients. J Neurol Sci 1995: 131: 58-64.
21. Higgins CF. ABC transporters: from microorganisms to man. Annu Rev Cell Biol 1992: 8: 67-113.
22. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993: 361: 726-730.
23. Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 1995: 57: 292-301.
24. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res 1988: 16: 1215.
25. Braun A, Kammerer S, Ambach H, Roscher AA. Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection. Hum Mutat 1996: 7: 105-108.
26. Ruiz M, Cool MJ, Pampols T, Giros M. ALDP expression in fetal cells and its application in prenatal diagnosis. Prenat Diagn 1997: 17: 651-656.
27. Yamada T, Shinnoh N, Kobayashi T. Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. Neurochem Res 1997: 22: 233-237.
28. Swartzman EE, Viswanathan MN, Thorner J. The PAL1 gene product is a peroxisomal ATP-binding cassette transporter. J Cell Biol 1996: 132: 549-563.
29. Shani N, Watkins PA, Valle D. PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene. Proc Natl Acad Sci USA 1995: 92: 6012-6016.