LETTER TO JMG

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

L Faivre¹, V Cormier-Daire¹, J M Lapierre¹, L Colleaux¹, S Jacquemont¹, D Geneviéve¹, P Saunier², A Munnich¹, C Turleau¹, S Romana¹, M Prieur¹, M C De Blois¹, M Vekemans¹

¹ Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France
² Service de Pédiatrie, CH de Fontainebleau, Fontainebleau, France

Correspondence to:
Correspondence to:
Dr M Vekemans, Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France;
vekemans@necker.fr

Keywords: Prader-Willi-like phenotype; SIM1 gene; chromosome 6q deletion

The first 150 words of the full text of this article appear below.

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 6q^1–5 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.

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 . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Jo, Y.-H., Chua, S. Jr. (2009). Transcription factors in the development of medial hypothalamic structures. Am. J. Physiol. Endocrinol. Metab. 297: E563-E567 [Abstract] [Full Text]  
• Traurig, M., Mack, J., Hanson, R. L., Ghoussaini, M., Meyre, D., Knowler, W. C., Kobes, S., Froguel, P., Bogardus, C., Baier, L. J. (2009). Common Variation in SIM1 Is Reproducibly Associated With BMI in Pi ma Indians. Diabetes 58: 1682-1689 [Abstract] [Full Text]  
• Baskin, D. G. (2006). Single-minded view of melanocortin signaling in energy homeostasis.. Endocrinology 147: 4539-4541 [Full Text]  
• Kublaoui, B. M., Holder, J. L. Jr., Tolson, K. P., Gemelli, T., Zinn, A. R. (2006). SIM1 Overexpression Partially Rescues Agouti Yellow and Diet-Induced Obesity by Normalizing Food Intake. Endocrinology 147: 4542-4549 [Abstract] [Full Text]  
• Holder, J. L. Jr, Zhang, L., Kublaoui, B. M., DiLeone, R. J., Oz, O. K., Bair, C. H., Lee, Y.-H., Zinn, A. R. (2004). Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am. J. Physiol. Endocrinol. Metab. 287: E105-E113 [Abstract] [Full Text]  
• Meyre, D., Lecoeur, C., Delplanque, J., Francke, S., Vatin, V., Durand, E., Weill, J., Dina, C., Froguel, P. (2004). A Genome-Wide Scan for Childhood Obesity-Associated Traits in French Families Shows Significant Linkage on Chromosome 6q22.31-q23.2. Diabetes 53: 803-811 [Abstract] [Full Text]  
• Liu, C., Goshu, E., Wells, A., Fan, C.-M. (2003). Identification of the Downstream Targets of SIM1 and ARNT2, a Pair of Transcription Factors Essential for Neuroendocrine Cell Differentiation. J. Biol. Chem. 278: 44857-44867 [Abstract] [Full Text]