CoChat
Sign Up
Cited by 37

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

Bena, F., Gimelli, S., Migliavacca, E., Brun-Druc, N., Buiting, K., Antonarakis, S. E., Sharp, A. J.·2010·Human Molecular Genetics
DOI 10.1093/hmg/ddq075
Open this paper in CoChat — free account

Abstract

Nearly all recurrent microdeletion/duplication syndromes described to date are characterized by the presence of flanking low copy repeats that act as substrates for non-allelic homologous recombination (NAHR) leading to the loss, gain or disruption of dosage sensitive genes. We describe an identical 1.11 Mb heterozygous deletion of 14q32.2 including the DLK1/GTL2 imprinted gene cluster in two unrelated patients. In both patients, the deleted chromosome 14 was of paternal origin, and consistent with this both exhibit clinical features compatible with uniparental disomy (UPD) (14)mat. Using a high-resolution oligonucleotide array, we mapped the breakpoints of this recurrent deletion to large flanking (TGG)(n) tandem repeats, each approximately 500 bp in size and sharing > or =88% homology. These expanded (TGG)(n) motifs share features with known fragile sites and are predicted to form strong guanine quadruplex secondary structures. We suggest that this recurrent deletion is mediated either by NAHR between the TGG repeats, or alternatively results from their inherent instability and/or strong secondary structure. Our results define a recurrent microdeletion of the 14q32.2 imprinted gene cluster mediated by flanking (TGG)(n) repeats, identifying a novel mechanism of recurrent genomic rearrangement. Our observation that expanded repeats can act as catalysts for genomic rearrangement extends the role of triplet repeats in human disease, raising the possibility that similar repeat s…

Overview

Integrity signals

Registry

Crossref · 10.1093/hmg/ddq075

Cites

4 of 4 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Flagged first, then by citations

Show all 4 references

Research works printed but not linked: 37

  1. Mefford, 2007, American journal of human genetics, 81, 1057, 10.1086/522591 · DOI
  2. 2006, Journal of Medical Genetics, 43, 625, 10.1136/jmg.2005.039453 · DOI
  3. 2008, Journal of Medical Genetics, 45, 710, 10.1136/jmg.2008.058701 · DOI
  4. 2006, Journal of Medical Genetics, 43, 180, 10.1136/jmg.2005.032268 · DOI
  5. 2007, Human Molecular Genetics, 16, 567, 10.1093/hmg/ddm016 · DOI
  6. Lupski, 1998, Trends in genetics : TIG, 14, 417, 10.1016/S0168-9525(98)01555-8 · DOI · Paper page
  7. Lupski, 1998, Molecular medicine (Cambridge, Mass.), 4, 3, 10.1007/BF03401724 · DOI
  8. Edelmann, 1999, Human Molecular Genetics, 8, 1157, 10.1093/hmg/8.7.1157 · DOI
  9. Engel, 1980, American journal of medical genetics, 6, 137, 10.1002/ajmg.1320060207 · DOI
  10. Kotzot, 2005, American journal of medical genetics. Part A, 136, 287, 10.1002/ajmg.a.30483 · DOI
  11. Kotzot, 2004, Annales de Genetique, 47, 251, 10.1016/j.anngen.2004.03.006 · DOI
  12. Blouin, 1993, American journal of human genetics, 53, 1074
  13. Pentao, 1992, American journal of human genetics, 50, 690
  14. Temple, 1991, Journal of Medical Genetics, 28, 511, 10.1136/jmg.28.8.511 · DOI
  15. Sutton, 2000, American journal of medical genetics, 93, 381, 10.1002/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9 · DOI
  16. Wylie, 2000, Genome Research, 10, 1711, 10.1101/gr.161600 · DOI
  17. 2007, Journal of Medical Genetics, 44, 637, 10.1136/jmg.2007.050807 · DOI · Paper page
  18. 2006, American journal of medical genetics, 140, 2039
  19. Buiting, 2008, Human mutation, 29, 1141, 10.1002/humu.20771 · DOI
  20. Kagami, 2008, Nature genetics, 40, 237, 10.1038/ng.2007.56 · DOI
  21. Hosoki, 2008, European journal of human genetics : EJHG, 16, 1019, 10.1038/ejhg.2008.90 · DOI
  22. Schneider, 2008, European journal of human genetics : EJHG, 16, 680, 10.1038/sj.ejhg.5201977 · DOI
  23. Zechner, 2009, Clinical genetics, 75, 251, 10.1111/j.1399-0004.2008.01116.x · DOI
  24. Wong, 2007, American journal of human genetics, 80, 91, 10.1086/510560 · DOI
  25. Yao, 2002, Journal of Neuroscience, 22, 5354
  26. Sutherland, 1995, PNAS, 92, 3636, 10.1073/pnas.92.9.3636 · DOI
  27. Bates, 1994, BioEssays : news and reviews in molecular, cellular and developmental biology, 16, 277, 10.1002/bies.950160411 · DOI
  28. Brouwer, 2009, BioEssays : news and reviews in molecular, cellular and developmental biology, 31, 71, 10.1002/bies.080122 · DOI
  29. Waldman, 1988, Molecular and Cellular Biology, 8, 5350, 10.1128/MCB.8.12.5350 · DOI
  30. Rubnitz, 1984, Molecular and Cellular Biology, 4, 2253, 10.1128/MCB.4.11.2253 · DOI
  31. Usdin, 1998, Nucleic Acids Research, 26, 4078, 10.1093/nar/26.17.4078 · DOI
  32. Pan, 2000, Nucleic Acids Research, 28, 3178, 10.1093/nar/28.16.3178 · DOI
  33. Kremer, 1991, Science, 252, 1711, 10.1126/science.1675488 · DOI
  34. Yu, 1997, Cell, 88, 367, 10.1016/S0092-8674(00)81875-9 · DOI
  35. Lukusa, 2008, Biochimica et Biophysica Acta. Protein Structure and Molecular Enzymology, 1779, 3, 10.1016/j.bbagrm.2007.10.005 · DOI
  36. Benson, 1999, Nucleic Acids Research, 27, 573, 10.1093/nar/27.2.573 · DOI · Paper page
  37. Kondo, 2006, Nucleic Acids Research, 34, 676, 10.1093/nar/gkj467 · DOI

Cited by

Sorted by citations

See all 37

Metadata

Authors
Bena, F., Gimelli, S., Migliavacca, E., Brun-Druc, N., Buiting, K., Antonarakis, S. E., & Sharp, A. J.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2010-02-23
Volume
19
Issue
10
Pages
1967-1973
ISSN
  • 0964-6906
  • 1460-2083
DOI
10.1093/hmg/ddq075
Cited by
37
References
4
Language
en

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review