ea0035p811 | Paediatric endocrinology | ECE2014
Araujo-Vilar David
, Ruiz-Riquelme Alejandro
, Sanchez-Iglesias Sofia
, Requena Jesus R
Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...