ABCMdb

PMID: 12759680

Maire F, Bienvenu T, Ngukam A, Hammel P, Ruszniewski P, Levy P
[Frequency of CFTR gene mutations in idiopathic pancreatitis].
Gastroenterol Clin Biol. 2003 Apr;27(4):398-402., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Leu997Phe Eighteen CFTR mutations or variants were detected in 16 patients (25%): ∆F508 (n = 7), L997F (n = 2), E528E (n = 4), 5T (n = 5). Login to comment 26 ABCC7 p.Leu997Phe Dix- huit mutations ou variants du gène CFTR étaient détectés chez 16 malades (25 %) : ∆F508 (n = 7), L997F (n = 2), E528E (n = 4), 5T (n = 5). Login to comment 53 ABCC7 p.Leu997Phe A complementary analysis for variants in CFTR gene exons 9, 10 and 17a (mutation L997F, variants E528E and 5T), thought to be implicated in atypical cystic fibrosis (idiopathic bronchectesis, bilateral agenesis of the vas deferens), was also performed using denaturing gradient gel electrophoresis [8, 18, 19]. Login to comment 66 ABCC7 p.Leu997Phe The prevalence of the L997F mutation and the E528E variant is < 1% [21-23]. Login to comment 73 ABCC7 p.Leu997Phe Identification of CFTR gene mutations and comparison with the French population Eighteen mutations or variants of the CFTR gene were identified in 16 of the 64 patients included in this study (25%): ∆F508 (n = 7), L997F (n=2), E528E (n = 4), 5T (n = 5). Login to comment 74 ABCC7 p.Leu997Phe Two patients were compound heterozygous: ∆F508/L997F and ? Login to comment 80 ABCC7 p.Leu997Phe The L997F mutation on exon 17a and the E528E variant on exon 10 were identified in 3.1 and 6.2% of the patients, respectively. Login to comment 105 ABCC7 p.Leu997Phe The significance of the L997F mutation and the E528E variant is not clear. Login to comment 106 ABCC7 p.Leu997Phe The L997F mutation is generally considered as a deleterious mutation and has exhibited an abnormally high prevalence in patients with chronic pancreatitis [9]. Login to comment 108 ABCC7 p.Leu997Phe The frequency of the L997F mutation (n = 2) and the E528E variant (n = 4) in our study gives a prevalence higher than usually reported in the general population. Login to comment