ABCMdb

PMID: 9842999

Cartault F, Steffann J, Vidaud D, Bousquet S, Lesure F, Renouil M, McDonell N, Feingold J, Beldjord C, Bienvenu T
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Clin Genet. 1998 Nov;54(5):437-9., [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Tyr122* Five have a frequency of 1% and above: AF508 (51%), Y122X (22.4%), 3120+ lG+A (7.7%), A455E (2.1%) and G551D (1.4%). Login to comment 23 ABCC7 p.Tyr122* The nonsense mutation Y122X has only been found on CF chromosomes of white Caucasians known as "petits blancs". Login to comment 25 ABCC7 p.Gly551Asp The AF508 and G551D mutations were probably introduced by the French settlers who came mainly from the western region of France (6). Login to comment 26 ABCC7 p.Ala455Glu The A455E has only been reported rarely in CF patients; its frequencyis higher than 1%in only two regions, in the Netherlands and in Saguenay Lac-Saint-Jean. Login to comment 30 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Gly542* ABCC7 p.Tyr122* ABCC7 p.Ala309Gly Ten CFTR mutations identified in 69 CF families from Reunion Island Mutationa Exonlintron CF alleles Percentage Ama E.10 72 52 Y122X E.4 33 24 A455E E.9 3 2.2 G551D E.11 2 1.4 1717-1G-+A i.10 1 0.7 G542X E.ll 1 0.7 116ldelC E.7 1 0.7 A3G9G E.7 1 0.7 zag+ 5~-+A i.14b 1 0.7 3120tlG-A i.16 11 a Unknown mutations 12 8.7 aCystic Fibrosis Genetic Analysis Consortium: Web site: http // w.genet.sickkids.on.ca/cftr/ CFTR represents the missense mutation A309G (Fig. 1A). Login to comment 34 ABCC7 p.Ser1255Leu The second new CFTR allele was !he missensemutation S1255L in exon 20 involving the nucleotide change C +T at position 3896 (Fig. 1C). Login to comment 37 ABCC7 p.Ala309Gly ABCC7 p.Ser1255Leu It is difficult to definitively conclude whether these reported missense mutations S1255L and A309G are pathogenic as there is at this time no simple functional test to determine whether a mutation leads to a defective allele. Login to comment 42 ABCC7 p.Ala309Gly ABCC7 p.Ser1255Leu 7 and 20 of CFTR showing the polymorphism L49L (B) and the mutations A309G (A), and S1255L (C),respectively. Login to comment