ABCMdb

PMID: 12906319

Wallis C
Atypical cystic fibrosis--diagnostic and management dilemmas.
J R Soc Med. 2003;96 Suppl 43:2-10., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCC7 p.Arg117His Between 70% and 75% of males with CBAVD carry mutations in each CFTR gene-the most common being deltaF508/R117H (without the 5T thymidine run in intron 8).12 A proportion of these patients who are homozygous for CFTR mutations also have sweat chlorides in the intermediate or abnormal range. Login to comment 80 ABCC7 p.Trp1282* The most common mutation is the absence of a three base pair sequence resulting in the loss of a phenylalanine residue at position 508-designated deltaF508.22 The remaining mutations are individually rare or unique, although some alleles tend to segregate within specific ethnic groups-for example, 36.2% of CF chromosomes in the Ashkenazi Jewish community carry the mutation W1282X, a gene with a frequency of 51% in the UK.22 4 J O U R N A L O F T H E R O Y A L S O C I E T Y O F M E D I C I N E S u p p l e m e n t N o . Login to comment 108 ABCC7 p.Arg117His Modifying genes co-inherited within the CFTR gene The mutation R117H is associated with CBAVD but does not cause lung disease-indeed it is commonly found in otherwise healthy males attending infertility clinics. Login to comment 110 ABCC7 p.Ala455Glu This 5T variant reduces the splicing efficiency with lower levels of functioning CFTR and thus greater clinical impact.27 The A455E mutation is mostly associated with mild pancreatic disease. Login to comment 112 ABCC7 p.Ser1235Arg If co-inherited, it appears to act in a dominant fashion over deltaF508, causing less severe lung disease.28 The clinical significance of polymorphisms such as the missense mutation S1235R is also generating interest. Login to comment 147 ABCC7 p.Arg117His pancreatic sufficiency has been linked to certain mutations such as R117H and A445E although insufficiency may emerge with time . Login to comment 176 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys She was found to have a disease-associated mutation in each CFTR gene (N1303K and R117H associated with the 7T variant in intron 8). Login to comment