Figure 4.

Splice mutation in SEDL. a, PCR amplification of a fragment of the SEDL gene spanning the exon 3/intron 3 junction. The mutant allele contains a +5G→A transition at the intron 3 splice-donor site, which disrupts a MaeII restriction site. The proband of family 1 is the affected man in the third generation of the pedigree as drawn. b, Sequencing of cDNA from a lymphoblastoid cell line from the proband of family 1. Sequencing reveals two transcripts (each missing exon 3, which contains the translational start site).