Table 1

Clinical history of CCDC103 p.His154Pro cases summarising diagnostic investigations

DemographicsSymptomsDiagnostic test results
IDSexAge (years)Age diag (years)Family historyFEV1 z-scoreMain symptomsSitusNasal NO (nL/min)CBF
Ciliary beat patternElectron microscopy
(first brushing)
Electron microscopy (repeat brushing)Genetics: sequencing protocol and segregations
1M77No−3.45Chronic cough, developmental delaySIND0ImmotileIDA +ODAIDA +ODAWatson et al12
2M41Sib 3−2.25Nasal dischargeSI10.95Mostly immotile with occasional residual movementIDA +ODAIDA +ODAWatson et al12
3M1210Sib 2−2.75Neonatal respiratory distress, nasal dischargeSS112.9Mostly immotile with occasional residual movementIDA +ODAIDA +ODAWatson et al12
4M13<1NoNDNeonatal respiratory distress, Gilbert syndrome, epilepsySI75.9Mostly immotile with occasional residual movementIDA +ODAIDA +ODAWatson et al12
5M136Sib 6−1.52Recurrent chest infectionsSI875.79Normal ciliary beat pattern reduced frequencyIDA +ODAIDA +ODAWESP
6F154Sib 5−0.61Recurrent chest infections, Eustachian tube dysfunction, nasal dischargeSS437.66Normal ciliary beat pattern reduced frequencyIDA +ODAIDA +ODAWESP
7F189No−1.58Recurrent chest infections, nasal discharge, bilateral glue earSI11110.6Mixed
Sample 1: normal ciliary beat pattern
Sample 2: immotile
IDA +ODAIDA +ODAIllumina TruSeq custom gene panelM
8M96No−0.08Wet cough, recurrent chest infections, conductive hearing lossSI578.8DyskinesiaIDAIDAAgilent SureSelect Focused ExomeP
9F77CHD0.43Chronic coughSI3310.9Normal ciliary beat patternNormalNDWatson et al12
10M10<1Sib 11 and 12−1.32Neonatal respiratory distress, nasal dischargeSI2611.5Mixed: normal areas, immotile areas, dyskinetic areasNormalNormalIllumina TruSeq custom gene panelB
11F2110Sib 10 and 12NDRecurrent chest infections, asthma, persistent collapse of right lower lobeSI2938.5Mixed: mostly reduced forward and recovery strokeIDANormalIllumina TruSeq custom gene panelB
12M13<1Sib 10 and 11−1.24Neonatal respiratory distress, nasal dischargeSS21416.3Normal ciliary beat patternIDANormalIllumina TruSeq custom gene panelB
13F2929NoNDBronchiectasis, infertilitySI2394.31Mixed: mostly reduced forward and recovery stroke
Static patches
NormalInsufficientAgilent SureSelectXTB Ciliome_651
14F11NoNDNeonatal respiratory distress, nasal discharge, wet coughSIND16.76DyskinesiaNormalInconclusiveAgilent SureSelectXT Ciliome_651
15F2121Sib 16NDRecurrent chest infections in childhood. No ear, chest or nasal symptoms in adulthoodSI15110.9Normal ciliary beat patternIDANormalAgilent SureSelectXTM Ciliome_651
16M1818Sib 15NDSensory neural hearing impairment, recurrent chest infections, chronic nasal congestion and rhinitisSI2769.9Mixed
80% normal ciliary beat pattern
20% immotile cilia on strips
IDANormalAgilent SureSelectXT Ciliome_651M
  • Normal test results are highlighted in bold. Normal range for nNO is above 77 nL/min. Local normal range for CBF is 8.5-16.8 Hz.

  • Segregation analysis using available parental samples indicated by M (mother is carrier), P (father is carrier) or B (both parents carriers), unaffected siblings have not been tested.

  • Age diag, age diagnosis confirmed; CBF, ciliary beat frequency; CHD, congenital heart defects; F, female; IDA, inner dynein arms; M, male; ND, not done; NO, nitric oxide; ODA, outer dynein arms; SI, situs inversus; Sib, sibling of; SS, situs solitus; WES, whole exome sequencing.