ABCC7 p.Asp36Asn
| CF databases: |
c.106G>A
,
p.Asp36Asn
(CFTR1)
D
,
|
| Predicted by SNAP2: | A: D (80%), C: D (80%), E: D (80%), F: D (91%), G: D (85%), H: D (85%), I: D (91%), K: D (91%), L: D (91%), M: D (91%), N: D (85%), P: D (91%), Q: D (85%), R: D (91%), S: D (80%), T: D (80%), V: D (91%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[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
113 [D36N] c.[1521_1523delCTT]?
X
ABCC7 p.Asp36Asn 21184098:113:1
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.Asp36Asn 21184098:279:105
status: NEWX
ABCC7 p.Asp36Asn 21184098:279:113
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.Asp36Asn 21184098:280:66
status: NEW