Paternal transmission of fragile X syndrome

Susan Zeesman, Lonnie Zwaigenbaum, Donald T. Whelan, Randi J Hagerman, Flora Tassone, Sherryl A M Taylor

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

We present a family in which a fragile X mosaic male, who carries both premutation and full mutation alleles in his peripheral blood leukocytes, has a daughter with both premutation and partially methylated full mutation alleles and a significant developmental disability. To our knowledge, this is the first report of such an occurrence and it challenges current thinking about the expansion and transmission of unstable FMR1 alleles from men to their daughters. It is currently accepted that neither males with premutations nor full mutations are at risk for having daughters with full mutations and fragile X syndrome. The sperm cells of full mutation males are thought to carry only premutation alleles. These alleles, when transmitted through a male, regardless of his cognitive status, are thought to be unable to expand to full mutations in the next generation. In effect, the expansion from premutation to full mutation has only been observed through female meioses. The sperm cells in the father in this family have been shown to contain only alleles in the premutation range. Since his daughter has both premutation and full mutation alleles the expansion to full mutation in this case must have occurred postzygotically.

Original languageEnglish (US)
Pages (from-to)184-189
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume129
Issue number2
StatePublished - Aug 30 2004

Keywords

  • FMR1 mRNA
  • FMRP
  • Fragile X syndrome
  • Mosaic
  • Paternal transmission
  • Premutation

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Zeesman, S., Zwaigenbaum, L., Whelan, D. T., Hagerman, R. J., Tassone, F., & Taylor, S. A. M. (2004). Paternal transmission of fragile X syndrome. American Journal of Medical Genetics, 129(2), 184-189.