ABCMdb

PMID: 16378926

Marcus-Soekarman D, Offermans J, Van den Ouweland AM, Mulder AL, Muntjewerff N, Vossen M, Kleijer W, Schrander-Stumpel C, Dooijes D
Hyperechogenic fetal bowel: counseling difficulties.
Eur J Med Genet. 2005 Oct-Dec;48(4):421-5., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Gly542* Routine CFTR-mutation analysis identified the G542X CFTR-mutation in fetal DNA and DNA from the mother (results available in the 21st week of pregnancy). Login to comment 45 ABCC7 p.Gly542* Compound heterozygosity for the G542X and 1677delTA mutations was subsequently demonstrated in fetal DNA confirming the diagnosis of cystic fibrosis in the fetus. Login to comment 67 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Gln552* ABCC7 p.Glu60* Routine CFTR-mutation analysis, using Table 1 CFTR-mutations screened for in the first step E60X 2143delT G542X G85E 2183AA-G G551D 394delTT 2184delA Q552X 621 + 1G-T 2789 + 5G-A R553X R117H 3849 + 10kbC-T R560T 711 + 5G-A R1162X S1251N 1078delT 3659delC 390insT R334W delta I507 W1282X R347P delta F508 N1303K A455E 1717-1G-A a panel of 29 CFTR-mutations, detects only 41.6% of CFTR-mutations in the Turkish population [1]. Login to comment 70 ABCC7 p.Gly542* The G542X mutation, initially detected in this case, is commonly found in Mediterranean populations and is present on 3.6% of the CF chromosomes in the Turkish population [1]. Login to comment