Atypical (non-CF) diseases associated with the CFTR gene.

Disease Common manifestations shared with CF Fraction of patients with at least one CFTR mutation (%) Reference
CBAVD absence of vas deferens (bilateral) 73/102 (73%)a Chillon, 1995 #305
51/68 (75%)a J Zielenski, P Patrizio, R Asch, L-C Tsui, submitted
CUAVD absence of vas deferens (unilateral) 6/14 (43%)b Mickle, 1993 #248
Diffuse Bronchiectasis abnormal dilatation of bronchi 6/10 (60%)c Poller, 1991 #301
6/48 (12.5%)d Simon-Bouy, 1993 #171
9/28 (32%)a Pignatti, 1994 #157
Bronchiectasis with elevated sweat Cl- abnormal dilatation of bronchi and high levels of sweat chloride 5/16(31%)e Gervais, 1993 #118
Allergic bronchopulmonary aspergillosis allergic asthma

tenacious sputum

mucus plugs

6/11 (54%)d Miller, 1994 #142
Chronic Pseudomonas bronchitis chronic sinusitis

nasal polyposis

2/10 (20%)d Miller, 1994 #142
Chronic bronchial hypersecretion abnormal mucous secretion 6/65 (9.2%)e Dumur, 1990 #300
Nasal polyposis nasal polyps 7/112 (6.2%)f Burger, 1991 #256
Neonatal transitory hypertrypsinaemia high levels of immunoreactive trypsin (IRT) 9/149(6%)e Laroche, 1991 #299

a-The numbers are based on comprehesive screening of CFTR mutations (including IVS8:5T) by a variety of methods; b- testing of 3 mutations ([[Delta]]F508, R117H and R75Q); c- direct sequencing of exons encoding NBF1; d- the most common CFTR mutations (unspecified); e- [[Delta]]F508 only ; f- 8 mutations ([[Delta]]F508, [[Delta]]I507, D110H, R117H, 621+1G->T, N1303K, G551D and R553X).