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Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
  1. L Pasquier1,
  2. V Laugel2,
  3. L Lazaro1,
  4. H Dollfus2,
  5. H Journel3,
  6. P Edery4,
  7. A Goldenberg5,
  8. D Martin6,
  9. D Heron7,
  10. M Le Merrer5,
  11. P Rustin5,
  12. S Odent1,
  13. A Munnich5,
  14. A Sarasin8,
  15. V Cormier-Daire5
  1. 1Unité de Génétique Clinique, Hôpital Sud, 35203 Rennes, France
  2. 2Fédération de Génétique Médicale, Hôpitaux Universitaires, 67098 Strasbourg, France
  3. 3Unité de Génétique Clinique, Hôpital Prosper Chubert, 56000 Vannes, France
  4. 4Service de Génétique Médicale, Hôtel-Dieu, 69000 Lyon, France
  5. 5Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France
  6. 6Laboratoire de Cytogénétique, Hôpital Fontenoy, 72000 Le Mans, France
  7. 7Service de Génétique Médicale, Hôpital Pitié-Salpétrière, 75013 Paris, France
  8. 8Laboratoire Instabilité Génétique et Cancer, UPR 2169–CNRS, Institut Gustave Roussy 94805 Villejuif, France
  1. Correspondence to:
    Dr L Pasquier
    Unité de Génétique Clinique, 16 Bd de Bulgarie–Hôpital Sud, BP 90347, 35203 Rennes cedex 2, France; laurent.pasquier{at}


Cockayne syndrome is a multi-systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi-organ dysfunction. The main clinical features are severe dwarfism (<−2 SD), microcephaly (<−3 SD), psychomotor delay, sensorial loss (cataracts, pigmentary retinopathy, and deafness), and cutaneous photosensitivity. Here, 13 new cases of Cockayne syndrome are reported, which have been clinically diagnosed and confirmed using a biochemical transcription assay. The wide clinical variability, ranging from prenatal features to normal psychomotor development, is emphasised. When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with growth retardation, microcephaly, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.

  • Cockayne syndrome
  • DNA repair
  • mental retardation

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  • Fundings: this work was supported by the GIS–Institut des Maladies Rares

  • Competing interests: none declared

  • Consent was obtained for publication of the figure