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Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome
  1. Fanny Laffargue1,
  2. Sylvie Bourthoumieu2,
  3. Brigitte Llanas3,
  4. Véronique Baudouin4,
  5. Annie Lahoche5,
  6. Denis Morin6,
  7. Lucie Bessenay7,
  8. Loïc De Parscau8,
  9. Sylvie Cloarec9,
  10. Marie-Ange Delrue10,
  11. Emmanuelle Taupiac3,
  12. Emilie Dizier11,
  13. Cécile Laroche11,
  14. Claire Bahans11,
  15. Catherine Yardin2,
  16. Didier Lacombe10,
  17. Vincent Guigonis11,12
  1. 1Department of Paediatrics, Clermont-Ferrand University Hospital, Clermont-Ferrand, France
  2. 2Department of Cytogenetic, CHREC, Limoges University Hospital, Limoges, France
  3. 3Department of Paediatric Nephrology, Bordeaux University Hospital, Bordeaux, France
  4. 4Department of Paediatric Nephrology, Hospital R. Debré, APHP, Paris, France
  5. 5Department of Paediatric Nephrology, Lille University Hospital, Lille, France
  6. 6Department of Paediatric Nephrology, Montpellier University Hospital, Montpellier, France
  7. 7Department of Paediatric Nephrology, Clermont-Ferrand University Hospital, Clermont-Ferrand, France
  8. 8Department of Paediatric Nephrology, Brest University Hospital, Brest, France
  9. 9Department of Paediatric Nephrology, Tours University Hospital, Tours, France
  10. 10Department of Medical Genetics, CHU Bordeaux, Rare Diseases Laboratory: Genetics and Metabolism (MRGM), University of Bordeaux, Bordeaux, France
  11. 11Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France
  12. 12CNRS UMR 7276, Limoges University, Limoges, France
  1. Correspondence to
    Professor Vincent Guigonis, Department of Paediatrics, CHREC, Limoges University Hospital, 8 Ave D Larrey, 87000, Limoges, France; v.guigonis{at}


Objective 17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with HNF1B gene deletion diagnosed secondary to renal disorders are only very rarely reported to have neuropsychiatric disorders. Interestingly, however, when tested, patients with HNF1B gene deletion are found to have 17q12 deletion. This brings into question the extent to which 17q12 deletion is genuinely associated with severe neuropsychological disorders and in which patients. In this study, we sought to confirm 17q12 microdeletion in kidney patients initially diagnosed with HNF1B gene deletion and evaluate neuropsychological disorders in these patients compared with those with HNF1B point mutation.

Patients and design Thirty-nine children with HNF1B disorders (26 with deletions) diagnosed secondary to renal abnormalities were included in this prospective study and tested for 17q12 microdeletion and neuropsychological disorders.

Results The same 17q12 microdeletion found in patients with neuropsychological disorders was identified in all of our patients with HNF1B deletion. Neurological examinations found no severe impairments except for one patient with autism. No significant differences were found between patients with deletions and those with point mutations as concerns learning abilities and schooling. Nevertheless, patients with deletions tended to have lower developmental quotients and more difficulties at school.

Conclusions Complete deletion of the HNF1B gene and 17q12 microdeletion syndrome are actually the same genetic disorder. The neuropsychological phenotype of patients appears less severe when 17q12 deletion is diagnosed secondary to kidney rather than neuropsychological abnormalities. These data may influence antenatal counselling.

  • Nephrology
  • Neurodevelopment
  • Genetics

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