ABCMdb

PMID: 20386322

Gorter RR, Karimi A, Sleeboom C, Kneepkens CM, Heij HA
Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis.
J Pediatr Gastroenterol Nutr. 2010 May;50(5):569-72., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Phe508Cys ABCC7 p.Glu60* The mutations tested for include the most common mutations DF508, F508C, G542X, R553X, N1303K, R1162X, and E60X, which represent 94% to 98% of the known mutations in the CFTR gene and are found in more than 99% of the Dutch population with CF. Login to comment 65 ABCC7 p.Gly542* One child was G542X homozygous. Login to comment 104 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly542* It has been reported that in newborns carrying DF508 or G542X, a higher incidence of MI is found, whereas G551D and R117H are associated with a decreased MI incidence (19,21,22). Login to comment