ABCC7 p.Leu548Gln
| CF databases: |
c.1643T>A
,
p.Leu548Gln
(CFTR1)
?
,
|
| Predicted by SNAP2: | A: D (85%), C: D (75%), D: D (95%), E: D (95%), F: D (63%), G: D (95%), H: D (91%), I: D (71%), K: D (95%), M: D (75%), N: D (95%), P: D (95%), Q: D (91%), R: D (95%), S: D (91%), T: D (91%), V: D (75%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Mid-trimester hyperechogenic bowel in a fetus of J... Prenat Diagn. 2006 Jan;26(1):6-8. 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., [PMID:16378323]
Abstract [show]
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 deltaF508 mutation in the father of Caucasian origin. The fetus proved to be compound heterozygous. Research into cystic fibrosis transmembrane conductance regulator (CFTR) mutations in this case was triggered by the fact that the fetus had a characteristic hyperechogenic bowel image with normal karyotype and no indications of intrauterine infections. Hyperechogenic bowel is highly indicative of a CFTR gene mutation. The incidence of cystic fibrosis (CF) in fetuses with mid-trimester hyperechogenic bowel is 5%, but once the most frequent mutations have been accounted for, rarer mutations must be investigated.
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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.
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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.
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ABCC7 p.Leu548Gln 16378323:28:108
status: NEW[hide] Comprehensive description of CFTR genotypes and ul... Hum Genet. 2011 Apr;129(4):387-96. Epub 2010 Dec 24. de Becdelievre A, Costa C, Jouannic JM, LeFloch A, Giurgea I, Martin J, Medina R, Boissier B, Gameiro C, Muller F, Goossens M, Alberti C, Girodon E
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
Hum Genet. 2011 Apr;129(4):387-96. Epub 2010 Dec 24., [PMID:21184098]
Abstract [show]
Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in such pregnancies, according to European recommendations. We report on our 18-year experience to document comprehensive CFTR genotypes and correlations with ultrasound patterns in a series of 694 cases of fetal bowel anomalies. CFTR gene analysis was performed in a multistep process, including search for frequent mutations in the parents and subsequent in-depth search for rare mutations, depending on the context. Ultrasound patterns were correlated with the genotypes. Cases were distinguished according to whether they had been referred directly to our laboratory or after an initial testing in another laboratory. A total of 30 CF fetuses and 8 cases compatible with CFTR-related disorders were identified. CFTR rearrangements were found in 5/30 CF fetuses. 21.2% of fetuses carrying a frequent mutation had a second rare mutation, indicative of CF. The frequency of CF among fetuses with no frequent mutation was 0.43%. Correlation with ultrasound patterns revealed a significant frequency of multiple bowel anomalies in CF fetuses. The results emphasize the need to search for rearrangements in the diagnosis strategy of fetal bowel anomalies. The diagnostic value of ultrasound patterns combining hyperechogenic bowel, loop dilatation and/or non-visualized gallbladder reveals a need to revise current strategies and to offer extensive CFTR gene testing when the triad is diagnosed, even when no frequent mutation is found in the first-step analysis.
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No. Sentence Comment
146 [L548Q] c.[3718-2477C[T]?
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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.
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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).
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ABCC7 p.Leu548Gln 21184098:280:108
status: NEW