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Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
  1. A-M Lossi1,
  2. F Laugier-Anfossi1,
  3. D Depetris1,
  4. J Gecz2,3,
  5. A Gedeon2,3,
  6. F Kooy4,
  7. C Schwartz5,
  8. M-G Mattei1,
  9. M-F Croquette6,
  10. L Villard1
  1. 1Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
  2. 2Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
  3. 3Department of Paediatrics, Adelaide University, Adelaide, Australia
  4. 4Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium
  5. 5J C Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646, USA
  6. 6Centre de Génétique Chromosomique, Hôpital Saint-Antoine, 329 Bd Victor Hugo, BP 255, 59019 Lille Cedex, France
  1. Correspondence to:
 Dr L Villard, Inserm U491, Faculté de Médecine La Timone, 27 Bd Jean Moulin 13385 Marseille Cedex 5, France;


Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Physical mapping of the translocation breakpoint on the human X chromosome was performed using fluorescence in situ hybridisation. We have mapped the X chromosome breakpoint to a 21 kb DNA fragment upstream of the first exon of the KLF8 (ZNF741) gene in Xp11.21. We have subsequently shown that the KLF8 transcript is no longer detected in cells from the patient, although KLF8 expression is otherwise normally present in control lymphoblasts. Mutation screening of probands from 20 unrelated XLMR families linked to the proximal short arm of the human X chromosome failed to show any mutation in the coding region of the KLF8 gene.

  • X linked mental retardation
  • KLF8
  • translocation
  • MRX, non-syndromic X linked mental retardation
  • XLMR, X linked mental retardation

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