ABCMdb

PMID: 15354327

Palomaki GE
Prenatal screening for cystic fibrosis: an early report card.
Genet Med. 2004 May-Jun;6(3):115-6., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Arg117His The ACMG Standards and Guidelines included recommendations that testing for the 5T/7T/9T polymorphism be performed reflexively only when the R117H mutation was identified. Login to comment 10 ABCC7 p.Arg117His It was well known that only when the R117H mutation is found with the 5T variant on the same chromosome is that mutation usually associated with classic cystic fibrosis. Login to comment 13 ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr An unanticipated problem occurred when one of the mutations that had not been subjected to evaluation during pilot trials was introduced directly into routine practice. The I148T mutation is known to occur about once in every 1000 genes among patientsclinicallyaffectedwithcysticfibrosis.Whentestingisper- formed in the general population, however, this mutation is found100timesmoreoftenthanexpected.8 Itisnowthoughtthat I148T is a polymorphism that is tightly linked to the actual disease-causing mutation 3199del6. Login to comment