First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy
Corresponding Author
Dr. G. Christoph Korenke
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Robert-Koch-Straße 40, D-37075 Göttingen, Germany; Fax: 49-551-396252Search for more papers by this authorErnst Krasemann
Institute of Human Genetics, University of Göttingen, Germany
Search for more papers by this authorVolker Meier
Institute of Human Genetics, University of Göttingen, Germany
Search for more papers by this authorWolfgang Beuche
Department of Neurology, University of Göttingen, Göttingen, Germany
Search for more papers by this authorD.H. Hunneman
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany
Search for more papers by this authorF. Hanefeld
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany
Search for more papers by this authorCorresponding Author
Dr. G. Christoph Korenke
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Robert-Koch-Straße 40, D-37075 Göttingen, Germany; Fax: 49-551-396252Search for more papers by this authorErnst Krasemann
Institute of Human Genetics, University of Göttingen, Germany
Search for more papers by this authorVolker Meier
Institute of Human Genetics, University of Göttingen, Germany
Search for more papers by this authorWolfgang Beuche
Department of Neurology, University of Göttingen, Göttingen, Germany
Search for more papers by this authorD.H. Hunneman
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany
Search for more papers by this authorF. Hanefeld
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany
Search for more papers by this author
References
- Blevins LS Jr, Shankroff J, Moser HW, Ladenson PW (1994) Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy. J Clin Endocrinol Metab 78: 261–265.
- Braun A, Ambach H, Kammerer S, Rolinski B, Stockier S, Rabl W, Gartner 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.
-
Braun A,
Kammerer S,
Ambach H,
Roscher AA
(1996)
Characterization of a partial pseudogene homologue to the adrenoleukodystrophy gene and application to mutation detection.
Hum Mutat
7:
105–108.
10.1002/(SICI)1098-1004(1996)7:2<105::AID-HUMU3>3.0.CO;2-B CAS PubMed Web of Science® Google Scholar
- Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P (1994) Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 94: 516–520.
- 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.
- 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 Mul Genet 3: 1903–1905.
- 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 Mutat 6: 104–115.
- Krasemann E, Meier V, Korenke GC, Hunnerman DH, Hanefeld F (1996) Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. Hum Genet 97: 194–197.
- Ligtenberg MJ, Kemp S, Sarde CO, van-Geel BM, Kleijer WJ, Barth PG, Mandel JL, van-Oost BA, Bolhuis PA (1995) Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 56: 44–50.
- Moser HW, Smith KD, Moser AB (1995) X-linked adrenoleukodystrophy. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): The Metabolic and Molecular Bases of Inherited Disease. Vol II. New York: McGraw-Hill, pp 2325–2350.
- 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.
- Moser 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.
- van Geel BM, Assies J, Weverling GJ, Barth PG (1994) Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: A survey of 30 kindreds. Neurology 44: 2343–2346.
- 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.
