Novel missense and frameshift mutations in the adrenoleukodystrophy gene

Japanese Journal of Human Genetics

Volumn 41, Issue 4, 1996, Pages 407-411

  Ueyama, Hisao ^a   Yamano, Tsunekazu ^a   Shimada, Morimi ^a   Ohkubo, Iwao ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

adrenoleukodystrophy; ALD gene; de novo mutation; frameshift mutation; missense mutation

Indexed keywords

DNA; MEMBRANE PROTEIN; MESSENGER RNA;

ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; FRAMESHIFT MUTATION; HUMAN; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; X CHROMOSOME LINKED DISORDER;

EID: 0030445280     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01876331     Document Type: Article

References (24)

1. Barcelö A, Giros M, Sarde CO, Martînez-Bermejo A, Mandel JL, Pàmpols T, Estivill X (1994): Identification of a new frameshift mutation (ISOldelAG) in the ALD gene. Hum Mol Genêt 3: 1889-1890
2. Barcelö A, Giros M, Sarde CO, Pintos G, Mandel JL, Pàmpols T, Estivill X (1995): De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Hum Genet 95: 235-237
3. Berger J, Molzer B, Faé I, Bernheimer H (1994): X-linked adrenoleukodystrophy (ALD): a novel mutation of thé ALD gène in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 205: 1638-1643
4. Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Röscher AA (1995): Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet 56: 854-861
5. Braun A, Kammerer S, Ambach H, Röscher A A (1996): Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection. Hum Mutât 7: 105-108
6. Cartier N, Sarde C-O, Douar A-M, Mosser J, Mandel J-L, Aubourg P (1993): Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum Mol Genet 2: 1949-1951
7. Fanen P, Guidoux S, Sarde C-O, Mandel J-L, Goossens M, Aubourg P (1994): Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 94: 516-520
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. Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T (1992): Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. Biochim Biophys Acta 1129: 323-327
10. Kemp S, Ligtenberg MJL, van Geel BM, Barth PG, Wolterman RA, Schoute F, Sarde C-O, Mandel J-L, 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
11. Kemp S, Ligtenberg MJL, van Geel BM, Barth PG, Sarde C-O, van Oost BA, Bolhuis PA (1995): Two intronic mutations in the adrenoleukodystrophy gene. Hum Mutât 6: 272-273
12. Koike R, Onodera O, Tabe H, Kaneko K, Miyatake T, Iwasaki S, Nakano M, Shizuma N, Ikeguchi K, Nishizawa M, Mosser J, Sarde C-O, Tsuji S (1995): Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients. Hum Mutât 6: 263-267
13. Kok F, Neumann S, Sarde C-O, Zheng S, Wu K-H, Wei H-M, Bergin J, Watkins PA, Gould S, Sack G, Moser H, Mandel J-L, Smith KD (1995): Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutât 6: 104-115
14. 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
15. Ligtenberg MJL, Kemp S, Sarde C-O, van Geel BM, Kleijer WJ, Barth PG, Mandel J-L, van Oost BA, Bolhuis PA (1995): Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 56: 44-50
16. Matsumoto T, Kondoh T, Masuzaki H, Harada N, Matsusaka T, Kinoshita E, Takeo G, Tsujihata M, Suzuki Y, Tsuji Y (1994): A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy. Jpn J Human Genet 39: 345-351
17. Mosser J, Douar A-M, Sarde C-O, Kioschis P, Feil R, Moser H, Poustka A-M, Mandel J-L. Aubourg P (1993): Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361: 726-730
18. Sarde C-O, Thomas J, Sadoulet H, Gamier J-M, Mandel J-L (1994): cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. Mamm Genome 5: 810-813
19. Song X-Q, Fukao T, Suzuki Y, Imamura A, Uchiyama A, Shimozawa N, Kondo N, Orii T (1995): Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient. Hum Mol Genet 4: 1093-1094
20. Tanaka K, Shimada M, Naruto T, Yamamoto H, Saeki Y, Sai H, Hirose G (1986): Very long-chain fatty acids in erythrocyte membrane sphingomyelin: detection of ALD hemizygotes and hétérozygotes. Neurology 36: 791-795
21. Tanaka K. Yamano T, Shimada M, Ohno M, Onaga A, Saeki Y, Kodama S, Nishio H (1987): Electronmicroscopic study on biopsied rectal mucosa in adrenoleukodystrophy. Neurology 37: 1012-1015
22. Uchiyama A, Suzuki Y, Song X-Q, Fukao T, Imamura A, Tomatsu S, Shimozawa N, Kondo N, Orii T (1994): Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy. Biochem Biophys Res Commun 198: 632-636
23. Vorgerd M, Fuchs S, TegenthofT M, Malin J-P (1995): A missense point mutation (SerSISPhe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. J Neurol Neurosurg Psychiatry 58: 229-231
24. Yasutake T. Yamada T, Furuya H, Shinnoh N, Goto I, Kobayashi T (1995): Molecular analysis of X-linked adrenoleukodystrophy patients. J Neurol Sei 131: 58-64