Résumé
Le syndrome de Prader-Willi (SPW) est une maladie neurogénétique complexe et rare caractérisée par une hypotonie néonatale sévère, une hyperphagie et une obésité d’apparition précoce, une petite taille, un hypogonadisme et des troubles de l’apprentissage et du comportement. Le diagnostic, la prise en charge précoces et le traitement par GH ont transformé l’évolution de ces patients. C’est un exemple classique de maladie liée à l’empreinte génomique (perte de l’expression d’un ou de plusieurs gène(s) porté(s) par l’allèle paternel au niveau de la région chromosomique 15q11q13).
Abstract
Prader-Willi syndrome (PWS) is a rare and multifaceted neurogenetic disease characterized by severe neonatal hypotonia, hyperphagia and obesity starting in early childhood, hypogonadism, short stature, behavioural problems and mental retardation. Early diagnosis, multidisciplinary care and treatment with growth hormone strongly improve the quality of life and development of these patients. It is a remarkable example of human disorder involving dysregulation of genomic imprinting: PWS results from the lack of expression of a (or several) paternally expressed gene(s) mapping to 15q11q13.
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Tauber, M., Cavaillé, J. Le syndrome de Prader-Willi. Obes 6, 161–171 (2011). https://doi.org/10.1007/s11690-011-0284-7
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DOI: https://doi.org/10.1007/s11690-011-0284-7