Avinaash V Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S Brooks, Gabriel Amador Aguirre, Irene Martín Del Estal, María Inmaculada Castilla de Cortázar Larrea, Ahmed Massoud, Hermine A van Duyvenvoorde, Christiaan De Bruin, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L Storr
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. Patients with suspected SRS negative for 11p15LOM/mUPD7 underwent whole-exome and/or targeted-genome sequencing. Mutant HMGA2 protein expression and nuclear localization were assessed. Two Hmga2-knockin mouse models were generated. Five clinical SRS patients harbored HMGA2 variants with differing functional impacts: 2 stop-gain nonsense variants (c...
February 20, 2024: JCI Insight