Table 4 Genetic testing results from 100,000 Genomes Project whole genome sequencing, clinical history and PCD diagnostic test results for each proband A-E in the Wessex non-CF bronchiectasis cohort found to have results consistent with a diagnosis of PCD
From: Whole genome sequencing in the diagnosis of primary ciliary dyskinesia
Anonymised family ID | Genetics | Clinical information | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Gene | Allele 1 [Classification] | Allele 2 [Classification] | PCD Diagnosis | Clinical History | nNO (nL/min) | HSV-brushing | HSV-postALI | TEM | IF | |
A | DNAH5 | DNAH5 GRCh38 5:13780960C > A,NM_001369.3:c.8821-1C > A [Pathogenic] | DNAH5 GRCh38 5:13753289GA > G, NM_001369.3:10815del, p.D3605fs1 [Pathogenic] | Confirmed | Normal situs, no NRDS, persistent wet cough since birth, lower lobectomy age 10y, bronchiectasis, rhinitis since birth, no ear issues | 30 | Static | Static | ODA | DNAH5 absent |
B | DNAI1 | DNAI1 GrCh38 9:34514436G > A, NM_012144.4:c.1612G > A, p.A538T [Likely Pathogenic] | Homozygous | Confirmed | SI, NRDS, Rhinitis, bronchiectasis, glue ear | 2 | Mostly static | Not done | ODA | Not done |
C | RPGR | RPGR GRCh38 X:38317333 T > C NM_000328.3:c.602A > G, p.H201R [VUS] | Hemizygous | Possible | Normal situs, NRDS, persistent wet since early infancy, persistent rhinitis since early, glue ear. NO EYE SYMPTOMS | 18 | mixed length shorter and longer than usual, dyskinetic throughout | Cilia short, dyskinetic throughout | Normal | RPGR absent |
D | CFAP53 | CFAP53 GRCh38 18:50262051G > A, NM_145020.5:c.238C > T, p.R80X (no parental info) | CFAP53 GRCh38 18:50242969C > A, NM_145020.5:c.1144G > T, p.E382X (no parental info) | Candidate | SI, no NRDS, recurrent chest infections started in adulthood, no ear issues, daily rhinitis | 171 | normal 2014 | |||
E | CEP164 | CEP164 GRCh38 11:117411859C > T, NM_014956.5:c.4228C > T, p.Q1410X. Paternal | CEP164 GRCh38 11:117387204C > T, NM_014956.5:c.1726C > T, p.R576X. Maternal | Candidate | Accompanied by father, BMI 28 103 kg, PICADAR 4; no NRDS but did have pnumonia as an infant; lifelong cough bronchiectasis, rhinitis | 164 | Reduced amplitude; some cilia long; | Within normal limits | ||