ABCMdb

PMID: 7513292

Verlingue C, Mercier B, Lecoq I, Audrezet MP, Laroche D, Travert G, Ferec C
Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.
Hum Genet. 1994 Apr;93(4):429-34., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly551Asp The most common mutation after AF508 is G551D. Login to comment 60 ABCC7 p.Leu610Ser One is a missense mutation, L610S. Login to comment 65 ABCC7 p.Glu831* The second novel mutation, E831X in exon 14a, was found in a 10-year-old girl. Login to comment 68 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ile148Thr ABCC7 p.Glu585* ABCC7 p.Glu92Lys CFI'R mutations characterized by denaturing gradient gel electrophoresis and DNA sequencing from Guthrie cards of 98 children with cystic fibrosis 431 Number of Mutations Exons Fre- References chromo- quencies somes 129 AF508 10 65.8 Kerem et al. 1989 5 G551D 11 2.8 Cutting et al. 1990 3 2183 AA---~G 13 1.7 unpublished data 3 N1303K 21 1.7 Osborne et al. 1991 3 G542X 11 1.7 Kerem et ai.1990 2 E92K 4 1.1 Nunes et al. 1993 2 I148T 4 1.1 unpublished data 2 574 del A 4 1.1 Fanen et a1.1992 2 1078 del T 7 1.1 Claustres et a1.1992 2 E585X 12 1.1 Cremonesi et al. 1992 2 2789 + 5 G--->A intron 14b 1.1 unpublisheddata 2 3659 del C 19 l. Login to comment 69 ABCC7 p.Trp1282* ABCC7 p.Arg1162* ABCC7 p.Gln493* ABCC7 p.Tyr1092* ABCC7 p.Lys710* ABCC7 p.Trp1204* ABCC7 p.Trp846* ABCC7 p.Glu60* ABCC7 p.Leu610Ser 1 Kerem et al. 1990 1 394 del TT 3 0.05 Claustres et al. 1993 1 E60X 3 0.05 unpublished data 1 621 + 1 G---~T intron 5 0.05 Zielenski et a1.1991 1 876 - 14 del 12 NT 6a 0.05 Audr6zet et a1.1993 1 Q493X 10 0.05 Kerem et al. 1990 1 1507 10 0.05 Kerem et al. 1990, Schwartz et al. 1991 1 1717 - 1 G---~A intron 10 0.05 Kerem et al. 1990, Guillermit et al. 1990 1 K710X 13 0.05 Fanen et al. 1992 1 L610S 13 0.05 This study 1 E83 IX 14a 0.05 This study 1 W846X 14a 0.05 Vidaud et al. 1990 1 $945L 15 0.05 Claustres et al. 1993 1 Y1092X 17b 0.05 unpublisheddata 1 3359 del CT 17b 0.05 Mercier et al. 1993 1 RI066C 17b 0.05 Fanen et al. 1992 1 W1204X 19 0.05 Costes et al. 1993 1 R1162X 19 0.05 Gasparini et al. 1991 1 W1282X 20 0.05 Vidaud et al. 1990 175 Identified 96.1 6 Unidentified 3.9 15 No blood left to perform the complete analysis 196 Total The affected child has a pancreatic insufficiency. Login to comment 70 ABCC7 p.Gly551Asp ABCC7 p.Glu831* The complete genotype is G551D/E831X. Login to comment 75 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* For example, G551D in exon 11 is consistent with a Celtic origin and W1282X is the most common mutation in the Ashkenazi Jews in Israel (Shoshani et al. 1992). Login to comment 84 ABCC7 p.Gly551Asp The 30 mutations identified were spread through 15 exons and the most common one after AF508, G551D, represented only 2.8% of these CF chromosomes. Login to comment 87 ABCC7 p.Gly551Asp Genealogical studies in these families have shown that three of them originated in Brittany where G551D occurs with a high frequency (Frrec et al. 1992). Login to comment