Seipin is a protein encoded by BSCL2 gene. BSCL2 mutations can produce congenital generalized lipodystrophy (Berardinelli-Seip syndrome). We have discovered that a novel BSCL2 mutation, c.985C>T, is responsible of a new severe degenerative brain disease, leading to death before age 9. This mutation causes an alternative splicing site leading to the skipping of BSCL2 exon 7, which produces an aberrant seipin.
Strikingly, homozygous children did not show lipodystrophy, whereas compound heterozygous shown a mixed phenotype, lipodystrophy plus neurodegeneration. Patients showed a severe loss of neurons affecting cerebral cortex and basal ganglia. Moreover, we have found that aberrant seipin appeared, beside in endoplasmic reticulum, also in the nucleus of transfected HeLa cells. (By Dr. David Araujo-Vilar, jmedgenet-2013-101525). (By Dr. David Araujo-Vilar, http://jmg.bmj.com/content/early/2013/04/05/jmedgenet-2013-101525 )