ABCMdb

PMID: 7526927

Hermans CJ, Veeze HJ, Drexhage VR, Halley DJ, van den Ouweland AM
Identification of the L927P and delta L1260 mutations in the CFTR gene.
Hum Mol Genet. 1994 Jul;3(7):1199-200., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro Sequence analysis of exon 15 identified a substitution of T at position 2912 to a C resulting in a replacement of leucine by proline at position 927 (L927P). Login to comment 22 ABCC7 p.Leu927Pro ASO hybridisation was performed to determine the frequency of the L927P mutation in our CF patient group using the oligomers: 5'-ACTTTGC- TTGCTATGG-3' (normal) and 5'-ACTTTGCCTGCTATGG-3' (mutant). Login to comment 25 ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro The L927P mutation was not present in 60 non-CF chromosomes tested, indicating that L927P is very likely not a polymorphism. Login to comment 30 ABCC7 p.Leu927Pro From the described clinical features we concluded that most likely both the L927P and AL1270 mutations can be classified as severe CF mutations comparable with AF508. Login to comment 32 ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro ABCC7 p.Leu927Pro Clinical features of CF patients with L927P and AL1260 CFTR mutations Family A patient 166 patient 290 Family B patient 246 Family C patient 221 patient 209 CF mutations Sex Age at diagnosis (yr) Current age (yr) Shwachman clinical score (max score r00)(7) Pancreatic insufficiency FEVt (% predicted) Onset of Pseudomonas colonization (yr) AF5O8/L927P male 3.7 15.2 80 yes 65 15.0 AF5O8/L927P female 1.0 13.6 85 yes 60 - AF508/L927P male 0.2 3.3 90 yes - AL1260/L927P female 0.6 21.0 80 yes 50 6.8 AL1260/L927P female 9.0' 18.7 75 yes 65 13.0 Patients 290 and 166 as well as patient 221 and 209 are siblings. Login to comment