Homozygous Deletion of a 80 Kb Region Comprising the Dnaj6c Gene and Part of the Lepr Gene on Chromosome 1p31.3 Is Associated with Early Onset Obesity, Mental Retardation and Epilepsy
نویسندگان
چکیده
1 Inserm, U1016, Institut Cochin, Paris, France 2 CNRS UMR 8104, Paris, France 3 Univ. Paris Descartes, Sorbonne Paris Cite, Paris, France 4 Institut de Génétique et Développement, CNRS UMR6290, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France 5 Laboratoire de Cytogénétique, CHU Pontchaillou, Rennes Cedex, France. 6 Service de Génétique Médicale, Centre Hospitalier Bretagne Atlantique, Vannes, France 7 Laboratoire de Génétique Moléculaire, CHU Pontchaillou, Rennes Cedex, France
منابع مشابه
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.
CONTEXT The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood. METHODS/RESULTS We describe here a 7-year old patient with a homozygous 80 kb deletion in the chromosomal 1p31.3 region with early onset obesity, mental retardation and epilepsy. The deleted region comprises the proximal promoter and ...
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