Genetic and transmission electron microscopy (TEM) findings from eight subjects with primary ciliary dyskinesia

SubjectPreviously reported?GeneMutationsImpactTEM
2 189 935NovelDNAH5c.[10815T>G]; c.[5157C>T]Missense mutation p.Asp3605Glu; Synonymous creating exon splicing enhancerODA defects
1 880 724NovelZMYND10c.[510+1delG]Splice donor mutationODA and IDA defects with CP alterations
2 255 918NovelDNAH5c.[6782T>G]; c.[1351C>T]Missense mutation p.Leu2261Arg; nonsense mutation p.Gln451*ODA defects
2 009 075NovelCCDC40c.[2824_2825insCTGT]; c.[2920C>T]Frameshift mutation p.Arg942Thrfs*57; nonsense mutation p.Gln974*Inconclusive
2 310 483[32]RSPH1c.[275-2A>C]Homozygous splice acceptor mutation p.Gly92Alafs*10Tubular disarrangements
2 438 548NovelDNAH11c.[3665G>A]; c.[6244C>T]Nonsense mutations p.(Trp1222*), p.(Arg2082*)Tubular disarrangements
2 014 246[30]ZMYND10c.[1136A>G]Missense mutation p.(Tyr379Cys)Normal
2 137 214NovelCCDC151c.[583_595dup]Frameshift mutation p.His199Argfs*60ODA defects

ODA: outer dynein arms; IDA: inner dynein arms; CP: central pair.