ABCMdb

PMID: 1373935

Nunes V, Bonizzato A, Gaona A, Dognini M, Chillon M, Casals T, Pignatti PF, Novelli G, Estivill X, Gasparini P
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
Am J Hum Genet. 1992 May;50(5):1140-2., [PubMed]

Sentences

No. Mutations Sentence Comment

28 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* Three other mutations are relatively common in the Spanish population-G542X (Kerem et al. 1990), R1162X (Gasparini et al. 1991), and N1303K (Osborne et al. 1991), which have frequen- Letters to the Editor A C G T 4-G M N Figure I Identification of the CF mutation 2869insG by direct sequencing: comparison ofthemutated (left) and normal (right) sequences of the CFTR region containing exon 15. Login to comment 39 ABCC7 p.Gly542* Of the five patients carrying this mutation, one is homozygous, andfourarecompound heterozygotes with other mutations-AF508 in two cases, G542X in one case, and an unknown mutation in the other. Login to comment 51 ABCC7 p.Trp1316* ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* ABCC7 p.Ser1255* Several other mutations located in the 3' portion of the gene-S1255X, W1316X (Cutting et al. 1990), N1303K (Osborne et al. 1991), and R1162X (Gasparini et al. 1991)-are also associated with a clinical picture varying between moderate and mild. Login to comment 54 ABCC7 p.Gly542* The four compound heterozygotes show a severe clinical course, which is probably due to the combined effect of 2869insG and either mutation AF508 or mutation G542X. Login to comment