Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada).
We describe the clinical features of six cystic fibrosis (CF) patients from Saguenay Lac-Saint-Jean who bear rare genotypes. Two patients with a delta F508/I148T genotype had pancreatic insufficiency, as did two patients compound heterozygous for the 621 + 1G-->T mutation who also had a major growth retardation. One CF adult who carried a delta F508/Q890X genotype had meconium ileus and bronchiectasis. The sixth patient (A455E/R117C) had borderline sweat chloride concentrations; the diagnosis of cystic fibrosis had remained doubtful until the molecular analysis showed the presence of two CF mutations. The seventh patient with a delta F508/R1158X genotype experienced several complications and is now 43 years old.
de Braekeleer
M
M
Département des Sciences Humaines, Université du Québec à Chicoutimi, Canada.
Mari
G
G
Verlingue
C
C
Allard
C
C
Leblanc
J P
JP
Simard
F
F
Aubin
G
G
Férec
C
C
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D010641:Phenotype; D011792:Quebec / Q000453:epidemiology