Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

Annals of Neurology

Volumn 52, Issue 5, 2002, Pages 683-688

  Maier, Esther M ^a   Kammerer, Stefan ^b   Muntau, Ania C ^a   Wichers, Maria ^c   Braun, Andreas ^b   Roscher, Adelbert A ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b SEQUENOM INC   (United States)

^c UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCORING SYSTEM; SYMPTOMATOLOGY; WILD TYPE; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; CHILD, PRESCHOOL; FATTY ACIDS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; MIDDLE AGED; REFERENCE VALUES; SEX CHROMOSOME ABERRATIONS; TRANSCRIPTION, GENETIC; X CHROMOSOME;

EID: 0036829503     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10376     Document Type: Article

References (20)

1. Moser HW. Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485-1508.
2. Moser HW, Smith KD, Watkins PA, et al. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol II. 8th Ed. New York: McGraw-Hill, 2001: 3257-3301.
3. Migeon BR, Moser HW, Moser AB, et al. Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci USA 1981;78:5066-5070.
4. Watkiss E, Webb T, Bundey S. Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J Med Genet 1993;30:651-654.
5. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
6. Allen RC, Nachtman RG, Rosenblatt HM, Belmont JW. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet 1994;54:25-35.
7. Pegoraro E, Schimke RN, Arahata K, et al. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994;54: 989-1003.
8. Holzinger A, Maier E, Stöckler-Ipsiroglu S, et al. Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene. Clin Genet 1998;53:482-487.
9. Moser HW, Moser AB, Frayer KK, et al. Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids. Neurology 1981;31:1241-1249.
10. Hauser SL, Dawson DM, Lehrich JR, et al. Intensive immunosuppression in progressive multiple sclerosis. A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH. N Engl J Med 1983;308: 173-180.
11. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983;33: 1444-1452.
12. Migeon BR. Non-random X chromosome inactivation in mammalian cells. Cytogenet Cell Genet 1998;80:142-148.
13. Orstavik KH, Orstavik RE, Naumova AK, et al. X chromosome inactivation in carriers of Barth syndrome. Am J Hum Genet 1998;63:1457-1463.
14. Naumova AK, Plenge RM, Bird LM, et al. Heritability of X chromosome - Inactivation phenotype in a large family. Am J Hum Genet 1996;58:1111-1119.
15. Plenge RM, Hendrich BD, Schwartz C, et al. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 1997;17:353-356.
16. Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: Phenotypic variability and implications for therapy. J Inherit Metab Dis 1992;15:645-664.
17. Maestri NE, Beaty TH. Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy. Am J Med Genet 1992;44:576-582.
18. Naidu S, Washington S, Thirumalai S, et al. X-chromosome inactivation in symptomatic heterozygotes of X-linked adrenoleukodystrophy. Ann Neurol 1997;42:498.
19. Harris A, Collins J, Vetrie D, et al. X inactivation as a mechanism of selection against lethal alleles: Further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. J Med Genet 1992;29:608-614.
20. Schmidt S, Träber F, Block W, et al. Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol 2001;248:36-44.