Table 2.

Summary of molecular genetic analysis

FamilyIndividual IdentificationExon FragmentNucleotide ChangeaCodon ChangebDetection Method
TOR12II:3EX15PKD1: 6795C→AY2265XDirect sequencing
III:2, III:3EX15PKD1: 6795C→AY2265XDirect sequencing
I:2, II:2EX15Normal sequenceNADirect sequencing
TOR 130II:1EX11PKD2: 2159ins1bpFrameshift 720→724XDirect sequencing
II:2EX11NormalDirect sequencing
TOR 163II:2EX11PKD1: 2216A→G c, dQ739RDirect sequencing
EX23PKD1: 8289del3bpcdel2763M; reading frame maintained
III:3EX11NormalDirect sequencing
EX23Normal
TOR 165II:3EX1PKD2: 567G→AW189XDirect sequencing
III:1EX1NormalDirect sequencing
TOR 166II:3EX15PKD1: 6062C→T c, eL2021PDirect sequencing
III:1EX15PKD1: 6062C→TL2021PDirect sequencing
  • a Nucleotide numbering starts with the first in-frame ATG codon of the mRNA sequence of PKD1 or PKD2.

  • b Codon numbering starts with the first in-frame methionine of polycystin 1 or 2.

  • c Gene variant of uncertain significance.

  • d Predicted to be benign by PolyPhen.

  • e Predicted to be possibly damaging by PolyPhen.