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Gene Review

FRA11B  -  fragile site, folic acid type, rare,...

Homo sapiens

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Disease relevance of FRA11B

  • The result also distinguishes the FRA11B locus from the site of translocation at 11q23-q24 in the Ewing sarcoma- and peripheral neuroepithelioma-specific t(11;22), indicating that the chromosomes of a previously reported patient heterozygous for fra(11)(q23) did not rearrange at this fragile site to give rise to Ewing sarcoma [1].

High impact information on FRA11B

  • A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B [2].
  • This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23 [3].
  • Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3 [4].
  • However, one case report has highlighted a possible relationship between the inheritance of a rare folate-sensitive fragile site in band 11q23.3 (FRA11B) and the chromosome 11q23-->qter deletion in Jacobsen (11q-) syndrome [4].
  • We have tested this hypothesis by high resolution physical mapping of FRA11B and of the deletion chromosome breakpoint in the Jacobsen syndrome patient [4].

Biological context of FRA11B


Associations of FRA11B with chemical compounds


Other interactions of FRA11B

  • 3. This result localizes ETS1 from the FRA11B locus to 11q24 [1].
  • In dealing with patients who are found to have fragile sites, other than FRAXA, FRAXE and possibly FRA11B, considerable reassurance can be given that they are not at increased risk of having children with congenital disease or developing disease themselves because of their fragile sites [9].
  • It is doubtful that parents with FRA11B are at increased risk of having children with Jacobsen syndrome, but this cannot be ruled out [9].
  • These were high length (but not expanded) repeats at FRA11B (P = 0.01), ATXN1 (P = 0.032) and ATXN3 (P = 0.022), all associated with poor risk disease [10].
  • The chromosomal subband 11q23.3 harbors both the common fragile site FRA11G and the rare fragile site FRA11B [11].


  1. Further localization of ETS1 indicates that the chromosomal rearrangement in Ewing sarcoma does not occur at fra(11)(q23). Simmers, R.N., Sutherland, G.R. Hum. Genet. (1988) [Pubmed]
  2. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., Langdon, W.Y., Sutherland, G.R., Richards, R.I., Tunnacliffe, A. Nature (1995) [Pubmed]
  3. Clinical and molecular characterization of patients with distal 11q deletions. Penny, L.A., Dell'Aquila, M., Jones, M.C., Bergoffen, J., Cunniff, C., Fryns, J.P., Grace, E., Graham, J.M., Kousseff, B., Mattina, T. Am. J. Hum. Genet. (1995) [Pubmed]
  4. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Jones, C., Slijepcevic, P., Marsh, S., Baker, E., Langdon, W.Y., Richards, R.I., Tunnacliffe, A. Hum. Mol. Genet. (1994) [Pubmed]
  5. Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Phillips, H.M., Renforth, G.L., Spalluto, C., Hearn, T., Curtis, A.R., Craven, L., Havarani, B., Clement-Jones, M., English, C., Stumper, O., Salmon, T., Hutchinson, S., Jackson, M.S., Wilson, D.I. Genomics (2002) [Pubmed]
  6. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Michaelis, R.C., Velagaleti, G.V., Jones, C., Pivnick, E.K., Phelan, M.C., Boyd, E., Tarleton, J., Wilroy, R.S., Tunnacliffe, A., Tharapel, A.T. Am. J. Med. Genet. (1998) [Pubmed]
  7. Cytogenetic findings in acute leukaemias of infants. Lampert, F., Harbott, J., Ritterbach, J. Br. J. Cancer Suppl. (1992) [Pubmed]
  8. Chromosome duplications and deletions and their mechanisms of origin. Tharapel, A.T., Michaelis, R.C., Velagaleti, G.V., Laundon, C.H., Martens, P.R., Buchanan, P.D., Teague, K.E., Tharapel, S.A., Wilroy, R.S. Cytogenet. Cell Genet. (1999) [Pubmed]
  9. The clinical significance of fragile sites on human chromosomes. Sutherland, G.R., Baker, E. Clin. Genet. (2000) [Pubmed]
  10. Trinucleotide repeat dynamic mutation identifying susceptibility in familial and sporadic chronic lymphocytic leukaemia. Auer, R.L., Dighiero, G., Goldin, L.R., Syndercombe-Court, D., Jones, C., McElwaine, S., Newland, A.C., Fegan, C.D., Caporaso, N., Cotter, F.E. Br. J. Haematol. (2007) [Pubmed]
  11. Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions. Fechter, A., Buettel, I., Kuehnel, E., Savelyeva, L., Schwab, M. Genes Chromosomes Cancer (2007) [Pubmed]
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