Figure 2.

Pedigree of the proband and genetic analysis of the WRN gene. (a) Pedigree of the relatives with Werner syndrome. Males and females are indicated by squares and circles, respectively. Filled symbols indicate an affected individual. Half‐filled symbols indicate heterozygous carriers. The proband is indicated by a black arrow. Electropherogram of the WRN gene sequence shows two heterozygous variants. The first one is c.3020delG from the paternal origin, and the second variant, c.1270‐2A>T, is a novel splice‐site mutation from the maternal origin. (b) The complementary deoxyribonucleic acid was amplified and sequenced using flanking primers located in exons 6–15 of WRN, surprisingly confirming exon 14 skipping in the patient and partial intron 13 fragment inclusion (pink) in her mother, instead of exon 10 skipping. There was no mutation in intron 13, exon 14 and intron 14, except one intron variant c.1720+24T>A (blue) in intron 14 with unknown significance.