Figure 1

Pedigree of family segregating Berardinelli-Seip congenital lipodystrophy and a BSCL2 splice site mutation. A) Family structure indicating consanguinity and autosomal recessive inheritance. Haplotypes spanning the BSCL2 gene mutation (c.574-2A > G) on chromosome 11 are shown below each symbol. The mutation segregates within a shared homozygous (autozygous) region in all affected individuals. B) The variant is predicted to lead to an exon skipping of exon 6, which would results in a frameshift and premature termination of the protein (p.Y256fsX48). C) Chromatogram showing cDNA sequences obtained from expressed mini-gene constructs containing BSCL1 gene spanning exons 5–7, with or without the variant. The variant is situated within the acceptor splice site of intron 5 of the BSCL2 gene. Wild-type (w.t.) BSCL1 construct (top), co-transfection of w.t. and mutant construct (middle) and mutated construct (bottom).