ABCMdb

PMID: 21184098

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., [PubMed]

Sentences

No. Mutations Sentence Comment

89 ABCC7 p.Arg553* [R553X] c.[1521_1523delCTT]? Login to comment 113 ABCC7 p.Asp36Asn [D36N] c.[1521_1523delCTT]? Login to comment 116 ABCC7 p.Lys710* [K710X] c.[1521_1523delCTT]? Login to comment 119 ABCC7 p.Gln493* [Q493X] c.[1521_1523delCTT]? Login to comment 122 ABCC7 p.Arg1158* [R1158X] c.[1521_1523delCTT]? Login to comment 126 ABCC7 p.Arg709* [R709X] c.[1521_1523delCTT]? Login to comment 133 ABCC7 p.Arg1162* TOP [R1162X]? Login to comment 134 ABCC7 p.Arg1066Cys [R1066C] c.[3484C[T]? Login to comment 137 ABCC7 p.Arg709* [R709X] c.[579?1G[T]? Login to comment 138 ABCC7 p.Gly542* [2125C[T] 28 - - MP Born, CF, MI [G542X]? Login to comment 139 ABCC7 p.Arg764* [R764X] c.[1624G[T]? Login to comment 146 ABCC7 p.Leu548Gln [L548Q] c.[3718-2477C[T]? Login to comment 149 ABCC7 p.Ile506Thr [I506T] c.[1521_1523delCTT]? Login to comment 155 ABCC7 p.Trp1282* - HE TOP, MI [W1282X]? Login to comment 162 ABCC7 p.Tyr913* [Y913X] c.[1519_1521delATC]? Login to comment 165 ABCC7 p.Arg553* TOP [R553X]? Login to comment 166 ABCC7 p.Thr338Ile [T338I] c.[1657C[T]? Login to comment 183 ABCC7 p.Ser1235Arg [S1235R] c.[1521_1523delCTT]? Login to comment 185 ABCC7 p.Trp846* - Ventriculomegaly Born, not CF (no MI) [W846X]? Login to comment 186 ABCC7 p.Gly576Ala [G576A;R668C] c.[2538G[A]? Login to comment 188 ABCC7 p.Val920Met - Born, not CF (no MI) 2 rare mutations (n = 1) [V920M]? Login to comment 189 ABCC7 p.Ser1235Arg [S1235R] c.[2758G[A]? Login to comment 191 ABCC7 p.Asn1303Lys - Born, not CF (no MI) Group 2 (secondhand referrals), n = 5/229 1 frequent CF and 1 CFTR-RD mutation (n = 4) [N1303K]? Login to comment 192 ABCC7 p.Asp443Tyr [D443Y;G576A;R668C] c.[3909C[G]? Login to comment 195 ABCC7 p.Gly576Ala [G576A;R668C] c.[1521_1523delCTT]? Login to comment 204 ABCC7 p.Arg74Trp - Born, not CF (no MI) 2 rare CFTR-RD mutations (n 5 1) [R74W;V201M;D1270N]? Login to comment 205 ABCC7 p.Arg74Trp [R74W;V201M;D1270N]a c.[220C[T;601G[A;3808G[A]? Login to comment 275 ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Asp443Tyr ABCC7 p.Asp443Tyr Screening for frequent mutations refers to use of a commercial kit Identification of CFTR-RD mutations, mutations of unknown significance and questionable cases makes genetic counseling delicate As rarely reported (Abramowicz et al. 2000), mild or CFTR-RD associated mutations might be found incidentally while searching for CF-causing defects, in particular when one CF mutation has been identified, as was the case in our study for the splicing T5 variant of intron 8 (c.1210-12T[5]), S1235R (p.Ser1235Arg, c.3705T[G), or the complex [D443Y;G576A;R668C] allele(p. Login to comment 276 ABCC7 p.Gly576Ala ABCC7 p.Asp443Tyr [Asp443Tyr; Gly576Ala;Arg668Cys], c.[1327G[T;1727G[C;2002C[T]). Login to comment 277 ABCC7 p.Thr338Ile ABCC7 p.Thr338Ile Eight fetuses were found with a genotype compatible with CFTR-RD, and 1 CF fetus with the mild T338I (p.Thr338Ile, c.1013C[T) CF mutation, thereby illustrating that fetal bowel anomalies not only reveal classical CF but also mild forms of the disease, as observed in newborn screening for CF (Narzi et al. 2007; Roussey et al. 2007; Thauvin-Robinet et al. 2009). Login to comment 279 ABCC7 p.Val920Met ABCC7 p.Val920Met ABCC7 p.Leu548Gln ABCC7 p.Leu548Gln ABCC7 p.Asp36Asn ABCC7 p.Asp36Asn 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. Login to comment 280 ABCC7 p.Leu548Gln ABCC7 p.Asp36Asn 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). Login to comment 281 ABCC7 p.Ser1235Arg ABCC7 p.Val920Met Qualification of a potential deleterious effect of V920M could not be done because the fetus also carried the mild S1235R mutation on the other allele and was not affected with CF. Login to comment