Table 2 Genetic, biochemical, microbiological and clinical characterization of the patients with the 11 novel mutations found: CFTR genotypes, sweat test values, seminal evaluation, cause of enrollment and final diagnosis of patients.

1

F508del/[E479X;V754M]

c.[1521_1523delCTT];[1435G>T;2260G>A] p.[Phe508del];[Glu479*;Val754Met]

M

106 ± 9

nd

Symptoms

CF-PI

2

F508del/K442X

c.[1521_1523delCTT];[1324A>T] p.[Phe508del];[Lys442*]

M

82 ± 8

Too young

Neonatal screening

CF-PI

3

F508del/D529N

c.[1521_1523delCTT];[1585G>A] p.[Phe508del];[Asp529Asn]

F

42 ± 5

—

Symptoms

CF-PI

4

W1282X/T465N

c.[3846G>A];[1394C>A] p.[Trp1282*];[Thr465Asn]

M

83 ± 7

nd

Symptoms

CF-PI

5

G542X/W19X(TAG)

c.[1624G>T];[56G>A] p.[Gly542*];[Trp19*]

M

58 ± 5

Too young

Symptoms

CF-PI

6^c

2789+5G>A/H1375P

c.[2657+5G>A];[4124A>C]

F

91 ± 8

—

Familiarity

CF-PS

7^c

2789+5G>A/H1375P

c.[2657+5G>A];[4124A>C]

M

76 ± 9

OA

Symptoms

CF-PS

8

2789+5G>A/H1375P

c.[2657+5G>A];[4124A>C]

M

63 ± 2

OA

Symptoms

CF-PS

9^d

[(TG)11T5;V562I;A1006E]/Q779X

c.[1210-14TG[11];1210-12T[5];1684G>A;3017C>A];[2335C>T]

M

70 ± 15

Too young

Neonatal screening

CF-PS

10^d

[(TG)11T5;V562I;A1006E]/Q779X

c.[1210-14TG[11];1210-12T[5];1684G>A;3017C>A];[2335C>T]

F

62 ± 17

—

Neonatal screening, familiarity

CF-PS

11

W1282X/G1247R(G>C)

c.[3846G>A];[3739G>C] p.[Trp1282*];[Gly1247Arg]

F

78 ± 20

—

Neonatal screening

CF-PS

12^e

3849+10kbC>T/G1244R

c.[3717+12191C>T];[3730G>A]

M

54 ± 1

Too young

Symptoms

CF-PS

13

Unknown/[1249-8A>G;G576A;R668C]

c.[?];[1117-8A>G;1727G>C;2002C>T]

F

72 ± 4

—

Symptoms

CF-PS

14

F508del/E56G

c.[1521_1523delCTT];[167A>G] p.[Phe508del];[Glu56Gly]

M

48 ± 2

OA

Symptoms

CBAVD