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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
  1. L Faivre1,
  2. V Cormier-Daire1,
  3. J M Lapierre1,
  4. L Colleaux1,
  5. S Jacquemont1,
  6. D Geneviéve1,
  7. P Saunier2,
  8. A Munnich1,
  9. C Turleau1,
  10. S Romana1,
  11. M Prieur1,
  12. M C De Blois1,
  13. M Vekemans1
  1. 1Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France
  2. 2Service de Pédiatrie, CH de Fontainebleau, Fontainebleau, France
  1. Correspondence to:
 Dr M Vekemans, Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France;
 vekemans{at}necker.fr

https://doi.org/10.1136/jmg.39.8.594

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    Apart from Prader-Willi syndrome, which is a well delineated imprinting disorder of the 15q11-q12 region, other chromosome anomalies have been described in a small number of patients with features reminiscent of Prader-Willi syndrome, including hypotonia, progressive obesity, small extremities, and delayed developmental milestones. Among these chromosome anomalies are some cases of interstitial deletion of chromosome 6q1–5 and haploinsufficiency of the SIM1 gene (6q16.2) has been proposed as a candidate gene for obesity.6 Here, we report a fifth case of Prader-Willi-like phenotype associated with an interstitial chromosome 6q deletion (6q16.1-q21) detected only by high resolution banding techniques. This suggests that a subgroup of patients with features reminiscent of Prader-Willi syndrome and an interstitial deletion of chromosome 6q16.2 could be delineated.

    CASE REPORT

    The proband was the only child of a 27 year old mother and a 32 year old father. Intrauterine growth retardation, oligohydramnios, and a left club foot were noted during the third trimester of pregnancy. He was born at term after a normal delivery. His growth parameters were weight 2350 g (−2.5 SD), length 47 cm (−1.5 SD), and OFC 33 cm (−1.5 SD). He was described as floppy and had feeding difficulties in early infancy. He sat at the age of 2 years, walked at 3½12 years, and had no speech when we first saw him aged 5 years. Excessive weight gain began at 3 years, with a big appetite and food seeking behaviour. There were no sleep disturbances. His behaviour was hyperactive, with a short attention span and …

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      CORRECTION
      BMJ Publishing Group Ltd
      Journal of Medical Genetics 2004; 41 320-320 Published Online First: 01 Apr 2004.