ABCMdb

PMID: 16378323

Yamamoto M, Molina-Gomes D, Girodon-Boulandet E, Moulis M, Leroy B, Simon-Bouy B, Selva J, Ville Y
Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q).
Prenat Diagn. 2006 Jan;26(1):6-8., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Leu548Gln ABCC7 p.Leu548Gln DOI: 10.1002/pd.1310 CASE REPORT Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q) M Yamamoto1 , D Molina-Gomes2 , E Girodon-Boulandet3 , M Moulis4 , B Leroy5 , B Simon-Bouy6 , J Selva1 and Y Ville1 * 1 Department of Obstetrics and Gynecology, Paris-Ouest University, CHI Poissy-St-Germain, France 2 Medical Genetics Service, Paris-Ouest University, CHI Poissy-St-Germain, France 3 Service of Biochemistry, Molecular Genetics Laboratory, Henri Mondor Hospital, Paris, France 4 Obstetrics and Gynecology Service, Mantes La Jolie Hospital, France 5 Fetal Pathology Unit, Paris-Ouest University, CHI Poissy-St-Germain, France 6 SESEP Laboratory, Universit´e de Versailles, France We present a case of a fetus with hyperechogenic bowel, in which the L548Q mutation was detected in the mother of Japanese origin and the F508 mutation in the father of Caucasian origin. Login to comment 28 ABCC7 p.Leu548Gln Further tests showed that she was a carrier of a new mutation, not known until now, located at exon 11, the L548Q locus. Login to comment