Table 1

Targeted long-read sequencing (T-LRS) identified candidate pathogenic variants in eight of nine individuals with Werner syndrome (BIA1010 and BIA1020 are siblings)

RegistryKnown variant (all heterozygous)Additional workupT-LRS resultConfirmation of T-LRS result
WVRT-PCR: c.2773delG, p.A925fsWestern: no proteinc.3961C>T, p.R1321*,PCR+Sanger
BIA1010Sanger: c.1105C>T, p.R369*Western: no proteinc.3234-170A>GRT-PCR
BIA1020Sanger: c.1105C>T, p.R369*Western: no proteinc.3234-170A>GRT-PCR
PD1010Exome sequencing: c.561A>G, p.K187*Western: no proteinchr8:g.31135822_
31 474 535delinsTCT
CB4Sanger: c.3139-1G>C, p.G1047fsWestern: no protein
SNP array: normal
CB6Sanger: c.1105C>T, p.R369*Western: no protein
SNP array: normal
FESRT-PCR: c.1165delA, p.R389fsWestern: no proteinc.2103_2104delAC, p.Leu702fsPCR+Sanger
SILV1010Sanger: c.2665C>T, p.R889*Western: ~1% protein
RT-PCR: skipping of exon 20
No second variant foundn/a
EN1010Genome sequencing: c.2367_2368delAT, p.S790fsNonec.839+1309T>GExon trap (figure 3)
  • n/a, not available.