ABCMdb

PMID: 18358580

Vailly J
The expansion of abnormality and the biomedical norm: neonatal screening, prenatal diagnosis and cystic fibrosis in France.
Soc Sci Med. 2008 Jun;66(12):2532-43. Epub 2008 Mar 20., [PubMed]

Sentences

No. Mutations Sentence Comment

98 ABCC7 p.Arg117His For instance, the mutation referred to as R117H, which turns out to be the second most common mutation in France, indiscriminately entails classic forms of CF, attenuated forms or else simple forms of infertility, or even no symptoms at all. Login to comment 99 ABCC7 p.Arg117His More precisely, R117H leads preferentially to CF when it is associated with another genetic marker called 5T, and preferentially to infertility when it is associated with the marker called 7T. Login to comment 102 ABCC7 p.Arg117His Currently, the R117H mutation represents 8.5% of the mutations detected in the screened population, whereas before NSCF was implemented, it accounted for only 0.3% of the mutations in patients on record in tertiary care centres (ONM, 2001). Login to comment 173 ABCC7 p.Arg117His In 2004, a study conducted by AFDPHE (2004) showed that a CF diagnosis had been established for 18 children that were homozygous (two identical mutations) or compound heterozygous (two different mutations) for the R117H mutation while having a normal sweat test. Login to comment 188 ABCC7 p.Arg117His e''At [X], we have an experience with a child that has [an] R117H [mutation] and is ST negative, while his older brother is ST positive`` (Paediatrician 4, Observation 1). Login to comment 233 ABCC7 p.Arg117His Situation 2 Bastien and Isabelle are the parents of little Zoe, who was given a sweat test according to the same procedure used for Lea, after a positive IRT level result and detection of a mutation e the famous so-called mild R117H mutation e were discovered during neonatal screening. Login to comment 237 ABCC7 p.Arg117His shows that you are a carrier of the R117H mutation (associated with alleles 7T, 7T of intron 8). Login to comment 256 ABCC7 p.Arg117His One of the three geneticists surveyed in the centre told me during a conversation I had with him concerning borderline forms: e''Whenever a mutation is found [by neonatal screening], even the R117H, people are sent to genetic counselling.. That`s the way it is, the machinery is in motion whether or not it is justified, I don`t know [he sighs]. Login to comment