Lotte Kleinendorst, Ozair Abawi, Niels Vos, Eline S van der Valk, Saskia M Maas, Angela T Morgan, Michael S Hildebrand, Jorge D Da Silva, Ralph J Florijn, Peter Lauffer, Jenny A Visser, Elisabeth F C van Rossum, Erica L T van den Akker, Mieke M van Haelst
Most patients with GNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. Recently, two cases with GNB1 encephalopathy caused by haploinsufficiency have been reported that also show a Prader-Willi-like phenotype of childhood hypotonia and severe obesity. Here we present three new cases from our expert centre for genetic obesity in which GNB1 truncating and splice variants, probably leading to haploinsufficiency, were identified. They all have obesity, hyperphagia and intellectual deficit...
April 10, 2024: Clinical Obesity