Table 1

Mutation analysis in blood and cyst DNA

Patient informationCyst nrSomatic mutation
Patient#1—PCLD, female, age 60 years1CNN LOH Chr 19p (18 Mb)
Heterozygous germ line mutation2CNN LOH Chr 19p (17 Mb)
PRKCSH c.292+1G>C (Chr 19)3CNN LOH Chr 19p (13 Mb)
4 PRKCSH c.374_375delAG
5 PRKCSH c.102delC
6 PRKCSH c.293-1G>A
Patient#2—PCLD, male, age 70 years1CNN LOH Chr 16p (17 Mb)
Unknown germ line mutation2CNN LOH Chr 16p (5 Mb)
3Not detected
4Not detected
5Not detected
6Not detected
Patient#3—ADPKD, female, age 56 years1Del Chr 4 (45 Mb)
Heterozygous germ line mutation2Del Chr 4 (34 Mb)
PKD2 c.1536_1538delTGT (Chr 4)3Del Chr 4 (16 Mb)
4*CNN LOH Chr 4 (104 Mb)
5 PKD2 c.1002_1003delCC, Del Chr 5 (1.5 Mb)
6Not detected
Patient#4—Sporadic cyst, female, age 46 years1Biallelic deletion Chr 4q (2.6 Mb)
Patient#5—Sporadic cyst, female, age 58 years1Not detected
2Not detected
Patient#6—Sporadic cyst, female, age 56 years1Not detected
Patient#7—Sporadic cyst, male, age 70 years1Not detected
  • *Kidney cyst.

  • ADPKD, autosomal dominant polycystic kidney disease; Chr, Chromosome; CNN, Copy number neutral; LOH, loss of heterozygosity; PCLD, polycystic liver disease.