Table 1.
Demographics and clinical data of family members.
| Family member | Current age/Age at diagnosis (years) | Clinical diagnosis | Cause of diagnosis | Allele 1 | Allele 2 | NBS | SCL (value) | Pancreatic status | Weight | Excessive mucus | Cough | Pseudomonas colonization |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S 1 | 12/10 | CF | Respiratory | c.3700A > G p.(Ile1234Val) | c.1545_1546del p.(Tyr515fs*) | N/A | 105 | PI | N | Yes | No | Yes |
| S 2 | 9/7 | CF | Respiratory | c.3700A > G p.(Ile1234Val) | c.1545_1546del p.(Tyr515fs*) | Negative | 120 | PI | N | Yes | No | Yes |
| S 3 | 7/5 | ACF | Familiarity | c.3700A > G p.(Ile1234Val) | c.2991G > C p.(Leu997Phe) | Negative | 15 | PI | N | Yes | Yes | No |
| M | 43/40 | Healthy | Familiarity | c.1545_1546del p.(Tyr515fs*) | c.2991G > C p.(Leu997Phe) | N/A | 19 | PS | N | No | No | No |
| F | 43/40 | Healthy | Familiarity | c.3700A > G p.(Ile1234Val) | WT | N/A | N/A | PS | N | No | No | No |
Abbreviations: ACF - atypical cystic fibrosis; CF - cystic fibrosis; F - Father; M - Mother; N - normal; N/A - not applicable; NBS - newborn screening; PI - pancreatic insufficient; PS - pancreatic sufficient; S - Sibling; SCL - sweat chloride level; WT - wild type.