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Table 1 CFTR Genotype of the tested eastern Sicilian infertile population

From: The true panel of cystic fibrosis mutations in the Sicilian population

 CFTR GenotypeMale patientFemale patientTotalReferences
Heterozygous for pathogenic mutationD110H/N011[7, 8, 24,25,26]
M952I/N213[7, 25]
R74W/N325[7, 8, 24,25,26]
S945L/N101[7, 8, 24,25,26]
D1270N/ N202[7, 8, 24,25,26]
D110E/N112[7, 8, 24,25,26]
G1244E/N011[7, 8, 24,25,26]
c.2490+2T>C/N314[7, 26]
L206W/N101[7, 8, 24,25,26]
G1069R/N303[7, 8, 24,25,26]
F1052V/N538[7, 8, 24,25,26]
621+3A>G/N101[7, 25, 26]
P5L/N011[7, 8, 24,25,26]
R334Q/N101[7, 8, 24,25,26]
3659delC/N101[7, 8, 24,25,26]
R553X/N202[7, 8, 24,25,26]
F508del/N16622[7, 8, 24,25,26]
D1152H/N101[7, 8, 24,25,26]
W1282X/N202[7, 8, 24,25,26]
N1303K/N213[7, 8, 24,25,26]
G542X/N314[7, 8, 24,25,26]
2183AA→G/N101[7, 8, 24,25,26]
CFTRdele22,23/N101[7, 8, 24,25,26]
Total521971 
HMD1270N/D1270N101[7, 8, 24,25,26]
Total101 
HEG542X/F1052V101[7, 8, 24,25,26]
Total101 
Mutation/ polyT-polyTGF508del/N-TG12; 5T101[7, 8, 24,25,26]
F1052V/N- TG12; 5T101[7, 8, 24,25,26]
Total202 
Pathogenic CAR74W; D1270N;V201M/N112[7, 8, 24,25,26]
F508del; A238V/N101[7, 8, 24,25,26]
D1270N; R74W/N202[7, 8, 24,25,26]
Total415 
polyT-polyTGTG12; 5T48654[7, 8, 24,25,26]
Total48654 
Non-Pathogenic CAR75Q;P1290P;4251G/A/N101[7, 8, 24,25,26]
G576A;R668C/N606[7, 8, 24,25,26]
Total707 
VUSVUSaT582S/N112[7]
Y1073C/N101[7]
T760M/N101[7]
E528K/N101[7]
Y1092C/N101[7]
D1445N/N303[24, 25]
c.1633G>A/N101[24]
S18G/N202[24, 25]
c.26C>T/N202[24, 25]
L223F/N101[24]
c.1806C>A/N101[24]
c.3710G>A/N101[25, 26]
c.5282delA/N202[24]
c.622-116A>G/N101[24]
E528K101[7, 26]
Y84H/N101[7, 26]
G1130A/N101[7, 26]
VUS 1712-92T>A/N101[24, 25]
1898+73 T>G/N213[24, 25]
R74Q/N011[24, 25]
VUS 2S42F/N112[24, 25]
VUS 3M348K/N404[24, 25]
K68E/N101[24, 25]
A959V/N112[24, 25]
D192G/N101[24, 25]
VUS 4c.1762G>A/N011[24, 25]
Y301C/N101[24, 25]
V201M/N202[24, 25]
E1409K/N011[24, 25]
L137P/N101[24, 25]
c.1495C>T/N101[24, 25]
 Total38644 
  1. CA: complex allele; HE: heterozygous compound; HM: homozygous; N: wild-type allele; VUS: variant of uncertain significance
  2. *: classification as VUS 1 to 4 has not been determined yet according to The Human Genomics Community (24) and CFTR-France Database (25). Red ink: pathogenic CFTR mutation
  3. Nota bene: the variant pathogenicity was referred according to referenced database: www.genet.sickkids.on.ce [7]; cftr2.org/mutations_historyCFTR2_11March2019(1).xlsx [8]; varsom.com [24]; www.cftr.iurc.mont.inserm.fr [25]; www.ncbi.nlm.nih.gov/clinvar/ [26]