The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

K Debacker, B Winnepenninckx, C Longman, J Colgan, J Tolmie, R Murray, R van Luijk, S Scheers, D Fitzpatrick, F Kooy

Research output: Contribution to journalArticlepeer-review


We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.
Original languageEnglish
Pages (from-to)9-14
Number of pages6
JournalCytogenetic and Genome Research
Issue number1-2
Publication statusPublished - 2007


  • Chromosome Fragile Sites
  • Chromosomes, Human, Pair 11
  • Computational Biology
  • Female
  • Folic Acid
  • Gene Expression Regulation
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pedigree
  • Phenotype


Dive into the research topics of 'The molecular basis of the folate-sensitive fragile site FRA11A at 11q13'. Together they form a unique fingerprint.

Cite this