ABCMdb

PMID: 16778595

Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, Quan F, Anguiano A, Huang S, Hantash F, Strom C
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.
Genet Med. 2006 Jun;8(6):339-45., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Arg347His ABCC7 p.Val520Phe ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn These mutations include R347H, S549N, S549R, 3876delA, 394delT, 3905insT, and V520F, in addition to the 25-mutation core panel recommended by ACMG/ACOG for population-based CF screening. Login to comment 102 ABCC7 p.Ile148Thr This comes to only a fraction (22%) of the individuals compound heterozygous for a CF mutation and the 5T variant (1/222) in that population.30 Previously,31 we described that the I148T CF mutation has a 113-fold increase in prevalence in our screening population when compared with a patient population with CF. Login to comment 103 ABCC7 p.Ile148Thr An explanation for the differential pathogenicity of this apparently low penetrant mutation is that only 0.6% of the I148T alleles contains the 3199del6 mutation in exon 17a and 9T in IVS-8.29 Similarly, the penetrance of the 5T allele can also be caused by different gene background on which the variant arose. Login to comment 123 ABCC7 p.Arg297Gln Previous reports showed that individuals carrying the haplotype were symptomatic with pancreatic-sufficient CF16,24 (in trans to ⌬F508), CBAVD,16,36 or asthma22 (in trans to R297Q). Login to comment