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J Med Genet 44:472-477 doi:10.1136/jmg.2006.048637
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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

  1. Charles E Schwartz1,
  2. Patrick S Tarpey2,
  3. Herbert A Lubs1,
  4. Alain Verloes3,
  5. Melanie M May1,
  6. Hiba Risheg1,
  7. Michael J Friez1,
  8. P Andrew Futreal2,
  9. Sarah Edkins2,
  10. Jon Teague2,
  11. Sylvain Briault4,
  12. Cindy Skinner1,
  13. Astrid Bauer-Carlin1,
  14. Richard J Simensen1,
  15. Sumy M Joseph1,
  16. Julie R Jones1,
  17. Josef Gecz5,
  18. Michael R Stratton2,
  19. F Lucy Raymond6,
  20. Roger E Stevenson1
  1. 1JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
  2. 2Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK
  3. 3Department of Genetics, Clinical Genetics Unit, Robert Debre University Hospital, Serurier, France
  4. 4Laboratoire de Génétique Chromosomique, Centre Hospitalier Régional d’Orléans, Orléans, France
  5. 5Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, Australia
  6. 6Cambridge Institute of Medical Research, University of Cambridge, Addenbrookes Hospital, Cambridge, UK
  1. Correspondence to:
 Dr R E Stevenson
 JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA; res{at}ggc.org
  • Received 20 December 2006
  • Accepted 27 February 2007
  • Revised 23 February 2007
  • Published Online First 16 March 2007

Abstract

A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (MED12) gene has been found in the original family with Lujan syndrome and in a second family (K9359) that was initially considered to have Opitz–Kaveggia (FG) syndrome. A different missense mutation in the MED12 gene has been reported previously in the original family with FG syndrome and in five other families with compatible clinical findings. Neither sequence alteration has been found in over 1400 control X chromosomes. Lujan (Lujan–Fryns) syndrome is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioural aberrations and dysgenesis of the corpus callosum. Although Lujan syndrome has not been previously considered to be in the differential diagnosis of FG syndrome, there are some overlapping clinical manifestations. Specifically, these are dysgenesis of the corpus callosum, macrocephaly/relative macrocephaly, a tall forehead, hypotonia, mental retardation and behavioural disturbances. Thus, it seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene.

Footnotes

  • Published Online First 16 March 2007

  • Competing interests: None.

  • The patients and their legal guardians have provided consent for publication of the patient images in figs 2 and 3 .

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