ABCMdb

PMID: 12116247

Muller F, Simon-Bouy B, Girodon E, Monnier N, Malinge MC, Serre JL
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.
Am J Med Genet. 2002 Jun 15;110(2):109-15., 2002-06-15 [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* Depending on the laboratory, the methods most frequently used were reverse dot blot with the Inno-Lipa CF2 kit (Murex) (eight mutations detected: DF508, DI507, G542X, G551D, R553X, 1717-1G ! Login to comment 47 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gln493* ABCC7 p.Val520Phe A, N1303K, W1282X), oligonucleotide ligation assay with the CF-OLA kit (PE-Biosystems, Foster City, CA) (31 mutations detected: DF508, DI507, Q493X, V520F, 1717-1G ! Login to comment 48 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr A, G542X, G551D, R553X, R560T, S549R, S549N, 3849 þ 10kbC ! Login to comment 50 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* ABCC7 p.Gly85Glu G, R1162X, 3659delC, W1282X, 3905insT, N1303K, G85E, 621 þ 1G ! Login to comment 51 ABCC7 p.Arg117His ABCC7 p.Tyr122* T, R117H, Y122X, 711 þ 1G ! Login to comment 52 ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His T, 1078delT, R347P, R347H, R334W, A455E, 1898 þ 1G ! Login to comment 64 ABCC7 p.Trp1282* ABCC7 p.Gly542* Of them, 14 were homozygous for DF508 and three were compound heterozygous for DF508 and another mutation (W1282X, G542X, 1078delT). Login to comment 71 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Trp846* In the last case (21) the fetus carried the nonsense mutation W846X (detected in the first step using DGGE), associated with the complex allele G576A-R668C. Login to comment 73 ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Trp846* Fetuses Carrying Two CFTR Mutations Cases CFTR Gene Mutations Ultrasound Findings Outcome 1-9 DF508/DF508 Hyperechogenic bowel TOP 10,11 DF508/DF508 Hyperechogenic bowel þ dilated loop TOP 12 DF508/DF508 Hyperechogenic bowel þ dilated loop þ gall bladder not seen TOP 13 DF508/DF508 Hyperechogenic bowel þ gall bladder not seen TOP 14 DF508/DF508 Intestinal dilated loops (absent at 22 wks) Birth, CF-affected, meconium ileus at birth 15 DF508/W1282X Hyperechogenic bowel (absent at 22 wks) TOP 16 DF508/G542X Hyperechogenic bowel þ dilated loop TOP 17 DF508/1078delT Hyperechogenic bowel þ dilated loop (absent at 22 wks) Birth, CF-affected,* meconium ileus at birth 18 DF508/O220X Hyperechogenic bowel þ dilated loop (present at 33 wks) Birth, CF-affected,* meconium ileus at birth 19 1078delT/394delTT Hyperechogenic bowel TOP 20** CFTRdele19/CFTRdele19 Hyperechogenic bowel (present at 33 wks) Birth, CF-affected, absence of meconium ileus at birth 21 W846X/G576A-R668C Hyperechogenic bowel Birth, potential absence of vas deferens TOP ¼ termination of pregnancy; Wks ¼ weeks of amenorrhea. Login to comment 103 ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Asp836Tyr ABCC7 p.Ala534Glu Heterozygous Cystic Fibrosis Cases With Abnormal Fetal Bowel at Ultrasound Examination Cases CFTR Gene mutations Ultrasound findings Outcome 22-27 DF508/X Hyperechogenic bowel Birth, thriving 28-29 DF508/X Hyperechogenic bowel Premature birth (32 wks), thriving 30 DF508/X Hyperechogenic bowel TOP cardiomegaly þ pulmonary hypoplasia 31 DF508/X Hyperechogenic bowel Lost to follow-up 32 DF508/X Hyperechogenic bowel þ short femur Died day 2 after birth, fetal distress 33 DF508/X Intestinal dilated loops Birth, thriving 34 DF508/X Hyperechogenic bowel þ fetal hydrops Birth, parvovirus-affected, thriving 35 DF508/X Intra-abdominal calcifications Birth, thriving 36 G542X/X Hyperechogenic bowel þ polyhydramnios Birth, thriving 37 R117H/X Hyperechogenic bowel Birth, thriving 38 A534E/X Hyperechogenic bowel Birth, thriving 39 D836Y/X Dilated loop (small bowel) þ polyhydramnios Birth, small bowel atresia, operated, not CF-affected In the present study, most CF cases with intestinal anomalies (15/20) were observed during the second trimester of pregnancy, because in France all pregnant women undergo ultrasound examinations at 11, 22, and 33 weeks. Login to comment 110 ABCC7 p.Gly542* ABCC7 p.Gly542* It has also been demonstrated that the risk of meconium ileus is higher among children with the G542X mutation [Hamosh et al., 1992] and one of the 20 CF cases was a DF508/G542X compound heterozygote. Login to comment