Table 2 DNAH5 mutations and phenotypes of primary ciliary dyskinesia patients
PatientGeographic originLocationDNA changeProtein change
Homozygous
169Italy[34]+[34]c.[5647C>T]+[5647C>T]p. [R1883X]+[R1883X]
Compound
170Italy[6]+[25, Intron 26]c.[670C>T]+[3876_4053+158del]p. [R224X]+[E1279-K1351del]
6195USA[Intron 8]+[9]c.[1089+1G>A]+[1108A>T]p. [splice*]+[I370F]
8149Switzerland[13]+[13]c.[1645A>G]+[1667A>G]p. [N549D]+[D556G]
8145Switzerland[27]+[61]c.[4348C>T]+[10365G>C]p. [Q1450X]+[Q3455H]
8171Switzerland[27]+[72]c.[4348C>T]+[12397G>T]p. [Q1450X]+[E4133X]
8182Switzerland[33]+[72]c.[5281C>T]+[12397G>T]p. [R1761X]+[E4133X]
8143Switzerland[34]+[49]c.[5557A>T]+[8029C>T]p. [K1853X]+[R2677X]
167Italy[Intron 34]+[61]c.[5710-2A>G]+[10365G>C]p. [C1904-K1909del]+[Q3455H]
8177Switzerland[41]+[76]c.[6791G>A]+[13194_13197del]p. [S2264N]+[D4398EfsX16]
6191USA[12]+[45]+[63]c.[1619T>C]+[7502G>C]+[10615C>T]p. [F540L]+[R2501P]+[R3539C]
6127Switzerland[51]+[77]c.[8485G>T]+[13486C>T]p. [V2829F]+[R4496X]
8131Switzerland[51]+[77]c.[8497C>G]+[13486C>T]p. [R2833G]+[R4496X]
Heterozygous
206Italy[32]+[nd]c.[5146C>T]+[nd]p. [R1716W]+[nd]
8103Switzerland[48]+[nd]c.[7888A>T]+[nd]p. [R2630W]+[nd]
6476Switzerland[76]+[nd]c.[13194_13197del]+[nd]p. [D4398EfsX16]+[nd]
  • nd, not determined.

  • Novel mutations are depicted in bold.

  • *Two different transcripts, leading to p.T326-P363del and p.T326VfsX25, were found for the c.1089+1G>A mutation.