Table 2 Diagnostic and clinical features of three CF, two CFTR-RD and four possible CFTR-RD cases identified with the in cis c.489+3A>G variant and p.Cys1400Ter pathogenic mutation
Diagnosis | CF Cases | CFTR-RD Cases | Possible CFTR-RD Cases | ||||||
|---|---|---|---|---|---|---|---|---|---|
Families/Cases | Family 1 Case 1 | Family 2 Case 1 | Family 3 Case 1 | Family 4 Case 1 | Family 4 Case 2 | Family 2 Case 2 | Family 4 Case 3 | Family 4 Case 4 | Family 5 Case 1 |
Allele 1 mutation(s) | p.Cys1400 Ter/c.489+3 A>G | p.Cys1400 Ter/c.489+3A> G | p.Cys1400Ter/c.489+3A> G | p.Cys1400 Ter/c.489+3 A>G | p.Cys1400 Ter/c.489+3 A>G | p.Cys1400Ter/c.489+3 A>G | p.Cys1400 Ter/c.489+3 A>G | p.Cys1400 Ter/c.489+3 A>G | p.Cys1400 Ter/c.489+3 A>G |
Allele 2 mutation(s) | p.Ser18 ArgfsTer16 | p.Gly178 TrpfsTer5 | p.Asn1303Lys/c.3469-65C > A | cDNA. 5T:TG12 | cDNA. 5T:TG12 | None | None | None | None |
Gender | Female | Male | Male | Female | Female | Male | Female | Male | Female |
Age (years) | 5.9 | 14 | 23.3 | 69.9 | 66.2 | 61.6 | 75.2 | 64.6 | 69.6 |
Age at diagnosis (years) | 0.74 | 0.9 | 0.4 | 66 | 63 | 60 | 71 | 61 | 67 |
Sweat chloride (mmol/L)1 | 93 | 82.5 | 117 | 32.9 | 51 | 56.5 | 37.6 | 31.9 | ND |
Clinical presentation | Neonatal screening | Persistent respiratory symptoms; Electrolyte imbalance | Persistent respiratory symptoms; Electrolyte imbalance; Failure to thrive | Persistent respiratory symptoms | Persistent respiratory symptoms | Persistent respiratory symptoms | Persistent respiratory symptoms | Persistent respiratory symptoms | Persistent respiratory symptoms |
Digital clubbing | No | Yes | Yes | No | No | No | No | No | No |
BMI z-score (absolute value)2 | − 1.0 (14) | − 0.2 (18.3) | 0.7 (25.7) | 0.2 (22.3) | − 1.5 (18.2) | 1.7 (31.5) | − 0.6 (20.1) | 0.1 (23.6) | 1.1 (27) |
FEV1 z-score (absolute value, % predicted)3 | ND | − 2.6 (1.71 L, 68%) | − 2.7 (3.19 L, 68%) | − 2.3 (1.31 L, 63%) | − 3.2 (1.15 L, 50%) | − 0.4 (3.07 L, 94%) | − 1.7 (1.10 L, 68%) | − 4.5 (0.75 L, 26%) | − 0.9 (2.22 L, 86%) |
Pancreatic insufficiency4 | Yes | Yes | Yes | No | No | No | No | No | No |
Chronic colonization5 | No | Pseudomonas aeruginosa | Staphylococcus aureus | No | No | No | No | No | No |
Chest CT abnormal findings (BE, ATL, EMPH)6 | RUL: No LUL: No RML: No LING: No RLL: No LLL: No | RUL: BE LUL: BE RML: BE, ATL LING: BE RLL: BE LLL: BE | RUL: BE LUL: BE RML: BE LING: BE RLL: BE LLL: BE | RUL: BE LUL: BE RML: BE LING: BE RLL: BE LLL: BE | RUL: BE LUL: BE RML: BE, ATL LING: BE, ATL RLL: BE LLL: BE | RUL: EMPH LUL: EMPH RML: EMPH LING: EMPH RLL: EMPH LLL: EMPH | RUL: BE LUL: BE RML: BE LING: BE RLL: BE, ATL LLL: BE, ATL | RUL: EMPH LUL: EMPH RML: EMPH LING: BE, EMPH RLL: EMPH LLL: BE, EMPH | RUL: No LUL: No RML: BE LING: No RLL: BE LLL: BE |
Intake of CFTR modulators | No | No | Yes | No | No | No | No | No | No |