ABCMdb

PMID: 7581390

Varon R, Magdorf K, Staab D, Wahn HU, Krawczak M, Sperling K, Reis A
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
Hum Mol Genet. 1995 Aug;4(8):1463-4., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Glu831* On the paternal allele they carry the nonsense mutation E831X (10) in exon 14a, which was detected by direct sequencing (data not shown). Login to comment 20 ABCC7 p.Glu831* The E831X mutation was associated with the 2-1-17-33 haplotype. Login to comment 32 ABCC7 p.Glu831* As mentioned above, the patients are compound heterozygotes with the nonsense mutation E831X in exon 14a, which causes the introduction of a stop codon. Login to comment 38 ABCC7 p.Arg347Pro In vitro studies have shown that some missense mutations located in the MSD1 retain a significant Cl" channel function and might therefore be responsible for the mild clinical phenotype, although the R347P mutation seems to be an exception (18). Login to comment 43 ABCC7 p.Gly551Asp From left to right: Direct sequencing of genomic DNA of the mutant allele from exon 4 of the CFTR gene from one of the affected siblings with the 591 del 18 mutation; part of nucleotide sequence of exon 4 encompassing the deletion; normal control sequence of exon 4. mutation G551D (19). Login to comment 44 ABCC7 p.Gly551Asp The authors suggested a causal role of the G551D mutation for polyposis nasi. Login to comment 45 ABCC7 p.Arg117His Further, CFTR mutations AF508 and R117H have been reported in another disease, congenital bilateral absence of vas deferens (CBAVD), with normal to moderately elevated sweat electrolyte levels but without other CF symptoms (20,21). Login to comment 49 ABCC7 p.Glu831* They are compound heterozygotes with the severe mutation E831X and the newly described mutation 591 del 18. Login to comment