ABCMdb

PMID: 9719372

Muller F, Dommergues M, Simon-Bouy B, Ferec C, Oury JF, Aubry MC, Bessis R, Vuillard E, Denamur E, Bienvenu T, Serre JL
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.
J Med Genet. 1998 Aug;35(8):657-60., [PubMed]

Sentences

No. Mutations Sentence Comment

28 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In all cases screening covered at least the eight mutations most frequently observed in France and North America, that is, AF508, AI507, 1717-1G--*A, G542X, G551D, R553X, W1282X, and N1303K. Login to comment 31 ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Other mutations were shown by ASO (allele Table 1 Fetal andparental mutations ofcysticfibrosis and pregnancy outcome in 209 cases ofhyperechogenicfetal bowel Prenatal genetic screening No CFTR mutation detected (n= 188) * Heterozygous CFTR mutation detected (n= 15) Fetus AF508/x (n=13) Fetus G55 1 D/x, father x/x, mother G55 1D/x (n= 1) Fetus G542X/x, father G542X/x, mother x/x (n=1) Homozygous CFTR mutation detected (n=6) Fetus AF508/AF508, father AF508/x, mother AF508/x (n=5) Fetus AF508/G542X, father G542X/x, mother AF508/x (n=1) Outcome Normal infant (n= 148) IUD or miscarriage (n= 14) Trisomy 21, TOP (n=3) Tetrasomy 12p, TOP (n=1) CMV/toxoplasmosis infection, TOP (n=7) Multiple malformations, TOP (n=2) Neonatal death unrelated to CF (n=3) Bowel atresia (n=8) Neonatal gastric haemorrhage (n= 1) Sudden infant death syndrome (n= 1) Normal infant (n=5) IUD (n=3) Digestive atresia, surgical treatment (n=3) TOP, fetal ascites (n= 1) Cystic fibrosis with meconium ileus at birth (n= 1) Normal infant (n= 1) Normal infant (n= 1) CF affected: TOP (n=2) CF affected: IUD (n= 1) CF affected: one neonatal death, one survivor (n=2) CF affected: TOP (n=1) CF=cystic fibrosis; x/x=no CFTR mutation detected; CFTR=CF transmembrane regulator; TOP=termination of pregnancy; IUD=intrauterine death; CMV=cytomegalovirus infection. Login to comment 49 ABCC7 p.Gly542* Six fetuses were homozygous for CFTR mutations (five AF508/AF508, one compound heterozygous AF508/G542X). Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Fifteen fetuses were found to be heterozygous for one of the CFTR mutations tested: 13 AF508, one G542X, and one G551D. Login to comment