Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Aug;30(8):651–654. doi: 10.1136/jmg.30.8.651

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

E Watkiss 1, T Webb 1, S Bundey 1
PMCID: PMC1016492  PMID: 8411051

Abstract

A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.

Full text

PDF
653

Images in this article

652Image
on p.652

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boyd Y., Fraser N. J. Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27 beta): correlation with X-inactivation status. Genomics. 1990 Jun;7(2):182–187. doi: 10.1016/0888-7543(90)90539-7. [DOI] [PubMed] [Google Scholar]
  2. Broadhead D. M., Kirk J. M., Burt A. J., Gupta V., Ellis P. M., Besley G. T. Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. Clin Genet. 1986 Nov;30(5):392–398. doi: 10.1111/j.1399-0004.1986.tb01896.x. [DOI] [PubMed] [Google Scholar]
  3. Clarke J. T., Greer W. L., Strasberg P. M., Pearce R. D., Skomorowski M. A., Ray P. N. Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl. Am J Hum Genet. 1991 Aug;49(2):289–297. [PMC free article] [PubMed] [Google Scholar]
  4. Del Mastro R. G., Bundey S., Kilpatrick M. W. Adrenoleucodystrophy: a molecular genetic study in five families. J Med Genet. 1990 Nov;27(11):670–675. doi: 10.1136/jmg.27.11.670. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Fearon E. R., Winkelstein J. A., Civin C. I., Pardoll D. M., Vogelstein B. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med. 1987 Feb 19;316(8):427–431. doi: 10.1056/NEJM198702193160802. [DOI] [PubMed] [Google Scholar]
  6. Graham G. E., MacLeod P. M., Lillicrap D. P., Bridge P. J. Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible. J Inherit Metab Dis. 1992;15(1):68–74. doi: 10.1007/BF01800346. [DOI] [PubMed] [Google Scholar]
  7. Greer W. L., Kwong P. C., Peacocke M., Ip P., Rubin L. A., Siminovitch K. A. X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect. Genomics. 1989 Jan;4(1):60–67. doi: 10.1016/0888-7543(89)90315-7. [DOI] [PubMed] [Google Scholar]
  8. Hendriks R. W., Hinds H., Chen Z. Y., Craig I. W. The hypervariable DXS255 locus contains a LINE-1 repetitive element with a CpG island that is extensively methylated only on the active X chromosome. Genomics. 1992 Nov;14(3):598–603. doi: 10.1016/s0888-7543(05)80157-0. [DOI] [PubMed] [Google Scholar]
  9. Hendriks R. W., Kraakman M. E., Mensink R. G., Schuurman R. K. Differential methylation at the 5' and the 3' CCGG sites flanking the X chromosomal hypervariable DXS255 locus. Hum Genet. 1991 Nov;88(1):105–111. doi: 10.1007/BF00204939. [DOI] [PubMed] [Google Scholar]
  10. Ingerslev J., Schwartz M., Lamm L. U., Kruse T. A., Bukh A., Stenbjerg S. Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation? Clin Genet. 1989 Jan;35(1):41–48. doi: 10.1111/j.1399-0004.1989.tb02903.x. [DOI] [PubMed] [Google Scholar]
  11. Migeon B. R., Moser H. W., Moser A. B., Axelman J., Sillence D., Norum R. A. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066–5070. doi: 10.1073/pnas.78.8.5066. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Moser H. W., Moser A. B., Smith K. D., Bergin A., Borel J., Shankroff J., Stine O. C., Merette C., Ott J., Krivit W. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis. 1992;15(4):645–664. doi: 10.1007/BF01799621. [DOI] [PubMed] [Google Scholar]
  13. Moser H. W., Naidu S., Kumar A. J., Rosenbaum A. E. The adrenoleukodystrophies. Crit Rev Neurobiol. 1987;3(1):29–88. [PubMed] [Google Scholar]
  14. O'Neill B. P., Moser H. W., Saxena K. M., Marmion L. C. Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. Neurology. 1984 Jun;34(6):798–801. doi: 10.1212/wnl.34.6.798. [DOI] [PubMed] [Google Scholar]
  15. Richards C. S., Watkins S. C., Hoffman E. P., Schneider N. R., Milsark I. W., Katz K. S., Cook J. D., Kunkel L. M., Cortada J. M. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet. 1990 Apr;46(4):672–681. [PMC free article] [PubMed] [Google Scholar]
  16. de Saint Basile G., Notarangelo L. D., Bonaiti-Pellié C., Doussau M., Prolini O., Craig I. W., Ugazio A., Griscelli C., Fischer A. Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27 beta. Hum Genet. 1992 May;89(2):223–228. doi: 10.1007/BF00217127. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES