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The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
  1. Salima El Chehadeh-Djebbar1,
  2. Laurence Faivre1,
  3. Anne Moncla2,
  4. Bernard Aral3,
  5. Chantal Missirian2,
  6. Cornel Popovici2,
  7. Patrick Rump4,
  8. Anthonie Van Essen4,
  9. Anne-Marie Frances5,
  10. Nadège Gigot3,
  11. Veronica Cusin1,
  12. Alice Masurel-Paulet1,
  13. Lucie Gueneau1,
  14. Muriel Payet6,
  15. Clémence Ragon6,
  16. Nathalie Marle6,
  17. Anne-Laure Mosca-Boidron6,
  18. Frédéric Huet1,
  19. Irina Balikova7,
  20. Jean-Raymond Teyssier3,
  21. Francine Mugneret6,
  22. Christel Thauvin-Robinet1,
  23. Patrick Callier6
  1. 1Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU de Dijon, France
  2. 2Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France
  3. 3Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, CHU Dijon, France
  4. 4Department of Genetics, University Medical Center, Groningen, The Netherlands
  5. 5Service de Génétique, Hôpital Font-Pré, Toulon, France
  6. 6Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, France
  7. 7Centre for Human Genetics, University Hospitals, Leuven, Belgium
  1. Correspondence to Laurence Faivre, Centre de Génétique, Hôpital d'Enfants, 10 Bd Maréchal de Lattre de Tassigny, 21034 Dijon Cedex, France; laurence.faivre{at}chu-dijon.fr

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We read with interest the article by Rivera-Brugués et al1 in a recent issue of this journal describing 3 patients out of 1523 patients with unexplained mental retardation. Analysis by whole genome array-CGH (comparative genomic hybridisation) showed an intragenic heterozygous deletion in the VPS13B gene, and the subsequent sequencing of the VPS13B gene revealed by one-point mutation in the second allele in all three patients.

In a previous study, we screened the VPS13B gene in 34 patients (28 families) with a suspicion of Cohen syndrome and identified 14 different mutations in 8 families (12 patients).2 The mutations were found in a compound heterozygous state in five families and in a homozygous state in one consanguineous family. In two other families (patients P1-F1, P2-F2 and P3-F2), only one heterozygous mutation was found (25% of families). Since the previous publication, 20 additional patients were screened, leading to the identification of compound heterozygosity in one patient and only one mutational event in four patients from three different families. All the patients with one or two mutational events in VPS13B were considered as having Cohen syndrome according to both Chandler's and Kolehmainen's criteria.3 4 Since the 244K array-CGH Agilent comprises 102 probes within the VPS13B gene (figure 1), we sought to identify a large intragenic event in two groups: group 1 included the five families in which one mutational event …

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