ABCMdb

PMID: 12414835

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
J Med Genet. 2002 Nov;39(11):e73., [PubMed]

Sentences

No. Mutations Sentence Comment

127 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Genotype-phenotype data are available especially for common genotypes,2 but information remains scarce or lacking for genotypes of compound heterozygotes with a rare mutation and homozygotes for a rare mutation.3 Among rare CFTR gene mutations, 1811+1.6kbA>G is practically absent in CF patients from other parts of France, but it is not rare in patients genotyped in the south west of France, occurring in fourth place after F508del, G542X, and N1303K. Login to comment 140 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Trp1063* RESULTS The results of genotyping the 13 CF patients carrying the mutation 1811+1.6kbA>G were: two homozygotes for 1811+1.6kbA>G/1811+1.6kbA>G and 11 compound heterozygotes for 1811+1.6kbA>G and for another CFTR mutation, that is, F508del (n=6), N1303K (n=2), G542X (n=1), 2183 AA>G (n=1), and W1063X (n=1). Login to comment 148 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Key points • The splice mutation 1811+1.6kbA>G of the CFTR gene is the fourth most frequent mutation (after F508del, G542X, and N1303K) in CF patients from the south west of France. Login to comment 157 ABCC7 p.Gly542* ABCC7 p.Gln1412* This is the case for nonsense and frameshift mutations always associated with severe CF with PI: they come into class I (for instance, G542X) when they lead to an absence of functional CFTR and into the "new" class V (for instance, Q1412X) when they cause the presence of a functional but unstable CFTR at the apical membrane. Login to comment 160 ABCC7 p.Gly551Asp ABCC7 p.Gly551Ser ABCC7 p.Asn1303Lys ABCC7 p.Arg1066Cys ABCC7 p.Asp1152His Some of them are always responsible for a unique phenotype that can be either CF-PI (for instance, the case of N1303K in class II, G551D in class III, and R1066C in class IV), or CF-PS (for instance, the case of G551S in class III) or CBVAD for D1152H (class IV). Login to comment 161 ABCC7 p.Arg117His ABCC7 p.Arg334Trp Other missense mutations show considerable phenotypic variation, such as CF-PI or CF-PS with R334W, CF-PS or congenital bilateral absence of the vas deferens (CVABD) with R117H (class IV). Login to comment