ABCC7 p.Leu548Gln
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16378323
[PubMed]
Yamamoto M et al: "Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)."
No.
Sentence
Comment
2
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.
X
ABCC7 p.Leu548Gln 16378323:2:136
status: NEWX
ABCC7 p.Leu548Gln 16378323:2:811
status: NEW28 Further tests showed that she was a carrier of a new mutation, not known until now, located at exon 11, the L548Q locus.
X
ABCC7 p.Leu548Gln 16378323:28:108
status: NEW
PMID: 21184098
[PubMed]
de Becdelievre A et al: "Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy."
No.
Sentence
Comment
146
[L548Q] c.[3718-2477C[T]?
X
ABCC7 p.Leu548Gln 21184098:146:1
status: NEW279 Much more difficult cases to manage are those where mutations of unknown significance are found, such as D36N (p.Asp36Asn, c.106G[A), L548Q (p.Leu548Gln, c.1643T[A) and V920M (p.Val920Met, c.2758G[A), which were considered as potentially CF-causing.
X
ABCC7 p.Leu548Gln 21184098:279:134
status: NEWX
ABCC7 p.Leu548Gln 21184098:279:143
status: NEW280 This was supported by follow-up after birth for the case with the D36N mutation while, in the case with the L548Q mutation the fetopathological analysis was not contributive (Yamamoto et al. 2006).
X
ABCC7 p.Leu548Gln 21184098:280:108
status: NEW