Figure 1.

Characterization of a new subject with HGPS. (A) Pedigree of the subject with HGPS. Filled black circle indicates the proband; red circle and square respectively represent the female (mother of proband) and male (uncle of proband) with pseudoxanthoma elasticum (PXE). A diagonal line indicates a deceased individual. Double lines indicate consanguinity. (B) Short portion of the LMNA sequence within exon 11. The paternal sequence (Father) corresponds to the wild type LMNA sequence. The affected subject (HGPS Patient) has a heterozygous C to T transition (indicated by a star) at nucleotide 1824 in exon 11 of the LMNA sequence.