ABCMdb

PMID: 11168024

Scotet V, De Braekeleer M, Audrezet MP, Lode L, Verlingue C, Quere I, Mercier B, Dugueperoux I, Codet JP, Moineau MP, Parent P, Ferec C
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Clin Genet. 2001 Jan;59(1):42-7., [PubMed]

Sentences

No. Mutations Sentence Comment

11 ABCC7 p.Arg347His ABCC7 p.Gly544Ser ABCC7 p.Arg297Gln ABCC7 p.Arg553Gly ABCC7 p.Ala349Val ABCC7 p.Val317Ala Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. Login to comment 74 ABCC7 p.Arg347His ABCC7 p.Gly544Ser ABCC7 p.Met348Lys ABCC7 p.Arg297Gln ABCC7 p.Arg553Gly ABCC7 p.Ala349Val ABCC7 p.Val317Ala ABCC7 p.Val322Ala We noted, among heterozygous children, a high proportion of mild mutations (R297Q, R347H, M348K, A349V, G544S) or for which the pathogenicity is yet impossible to determine (V317A, V322A, R553G). Login to comment 75 ABCC7 p.Arg347His The R347H mutation was found at an abnormally high frequency in carrier babies (n=9, i.e. 4.2% of the mutated alleles), whereas only one CF child carrying this mutation was identified over the same period (1.0%). Login to comment 89 ABCC7 p.Arg297Gln ABCC7 p.Arg560Lys ABCC7 p.Val322Ala ABCC7 p.Tyr301Cys Molecular abnormalities detected in exons 7, 10 and 11 of the CFTR gene in a control population and in the affected and heterozygous children identified by the neonatal screening between 1992 and 1998 in Brittany, France ContributorsAlleles in the controlAlleles in affectedMolecular abnormalities Alleles in carrierExon Type children populationchildren No % No % No % Disease causing mutations Y301C 7 Mild 1 0.47 Constantinou-Deltas CD et al.* 7 Mild 1 1.03 9 4.22 Cremonesi L et al. (38)R347H Audre´zet MP et al. (39)0.471Mild7M348K 7 MildA349V 1 0.47 Audre´zet MP et al. (30) Fe´rec C et al. (29)0.471Mild10S492F 0.942 This studyMild11G544S 11 MildI556V 1 0.47 Ghanem N et al.* R560K 11 Mild 1 0.47 Fe´rec C et al. (29) 1078delT 7 Severe 2 2.06 5 2.35 Claustres M et al. (40) Fe´rec C et al. (29)0.471Severe71221delCT DF508 10 Severe 81 83.51 170 79.81 11 2.6 Kerem B et al. (12) DI507 Schwarz M et al. (41)0.471Severe10 11 Severe1717-1 GA 1 1.03 3 1.41 Kerem B et al. (42) Scotet V et al. (28)1.0311806delA 11 Severe Kerem B et al. (42)1.8743.09G542X 11 Severe 3 5.16 5 2.35 Cutting GR et al. (43)G551D 11 Severe 5 Cutting GR et al. (43)1 0.471.03R553X 11 Severe 1 Non-disease causing mutations R297Q 7 1 1.03 1 0.47 Graham CA et al.* 0.942 This study7V317A V322A 7 1 0.47 This study 11 1 1.03 1 0.47 Scotet V et al. (28)R553G 11R553Q 1 0.47 Dork T et al. (44) 97 100 213 100 422 100 * From Cystic Fibrosis Genetic Analysis Consortium (http://www.genet.sickkids.on.ca) An excess of heterozygotes carrier of the most frequent mutation (DF508) among neonates with hypertrypsinaemia has been reported (23, 24). Login to comment 101 ABCC7 p.Arg117His This hypothesis is supported by the fact that some CF genotypes are associated with a normal sweat chloride level (DF508/R117H (7T), DF508/3849+10kb CT) (33-35). Login to comment