Article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
European journal of human genetics : EJHG - 1 Aug 2015
El Khattabi Laïla, Guimiot Fabien, Pipiras Eva, Andrieux Joris, Baumann Clarisse, Bouquillon Sonia, Delezoide Anne-Lise, Delobel Bruno, Demurger Florence, Dessuant Hélène, Drunat Séverine, Dubourg Christelle, Dupont Céline, Faivre Laurence, Holder-Espinasse Muriel, Jaillard Sylvie, Journel Hubert, Lyonnet Stanislas, Malan Valérie, Masurel Alice, Marle Nathalie, Missirian Chantal, Moerman Alexandre, Moncla Anne, Odent Sylvie, Palumbo Orazio, Palumbo Pietro, Ravel Aimé, Romana Serge, Tabet Anne-Claude, Valduga Mylène, Vermelle Marie, Carella Massimo, Dupont Jean-Michel, Verloes Alain, Benzacken Brigitte, Delahaye Andrée
Abstract excerpt
6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a...
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