ABCMdb

PMID: 9429141

el-Harith EA, Dork T, Stuhrmann M, Abu-Srair H, al-Shahri A, Keller KM, Lentze MJ, Schmidtke J
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
J Med Genet. 1997 Dec;34(12):996-9., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Asn1303Lys Prominent mutations were the splice mutation 3120+IG--A (intron 16) foliowed by N1303K (exon 21) and 1548delG (exon 10). Login to comment 23 ABCC7 p.Asn1303Lys ABCC7 p.Ile1234Val Table 1 CFTR mutations in 12 Arab CFfamilies Nucleotide Allele Mutation change Locationi frequenicy Reference 3120+1G- A3120+1G-AIntron 16 3 (21%) 14 N1303K 4041C-G Exon 21 2 (14%) 12 1548delG 1548delG Exon 10 2 (14%) This study 406-2A--G 406-2A-G Intron 3 1 (7%) This study 2043delG 2043delG Exon 13 1 (7%) 13 I1234V 3832A- G Exon 19 1 (7%) 15 Unknown 4 (29%) Mutations identified in 12 Arab CF families are listed by decreasing frequency. Login to comment 26 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Tyr1092* ABCC7 p.Tyr1092* ABCC7 p.Ile336Lys Deletions of two or more base pairs were screened for by electrophoresis using a native 12% polyacrylamide gel. The 20 common CFTR mutations that were screened for were AF508, AI507, 1677delTA, R347P, R347H, R553X, G551D, G542X, N1303K, 3849+1OKbC-8'T, R334W, I336K, 2789+5G-A, 1717-1G-A, 3272- 26A- G, Y1092X, 2143delT, W1282X, RI 17H, and the 5T allele. Login to comment 35 ABCC7 p.Asn1303Lys ;/ mon CFTR mutations (first step screening) i showed only one mutation, N1303K in exon 21. Login to comment 39 ABCC7 p.Ile1234Val 1548delG, I1234V, and 406-2A--G. Login to comment 40 ABCC7 p.Asn1303Lys The three / prominent mutations in our sample of 12 Arab j ~ v CF families were 3120+1G-A, N1303K, and 1548delG (table 1). Login to comment 49 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* For direct mutation analyses, PCR products were digested with the respective restriction enzyme and the fragments were separated by electrophoresis using a 3% NuSieve/i % SeaKem agarose gel. Mutagenesis primers were designed for some mutations (Ri17H, 1717-lG-A, G542X, 2143delT, 3272-26A-.G, and N1303K) to create artifi- shown). Login to comment 52 ABCC7 p.Asn1303Lys In the first family, two compound heterozygous sibs, a girl and a boy aged 4 months and 7 years, respectively, both carried the N1303K mutation" on the other allele. Login to comment 54 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Ile1234Val In the second family, a single CF child carried 1548delG with _0 iN If 4a El-Harith et al Table 2 CFTR mutation genotypes and clinical phenotypes of 12 Arab children with cysticfibrosis Age Sweat Pseudonionas Patient chloride Meconiuni Pancreatic aeruginosa No Genotype Sex c ad (nniol/ll) ileus status colonisation 4075 406-2A--G/406-2A--G F 1.5 ab 90 Yes PI No CF30 1548deIG/N1303K F 0.3 ab 180 No PI No CF32 1548deIG/N1303K M 7.0 0.8 110 No PI No CF40 1548delG/unknown M 1.0 0.5 70 No PI Yes CF01 2043delG/2043delG F 0.3' ab 65 Yes PI Yes CF10 3120+1G-A/3120+1G-A M 2.7 0.7 129 No PI Yes CF16 3120+1G-.A/3120+1G-A F 3.0 ab 121 Yes PI Yes CF46 3120+1G-A/3120+1G--A M 4.6 0.3 75 No PI Yes CF49 3120+1G-A/3120+1G-'A M 1.0 0.1 100 No PI Yes CF25 11234V/11234V F 5.5 0.5 62 No PI Yes CF28 I1234V/11234V F 1.0 0.5 65 No PS No CF19 N1303K/N1303K F 2.6 2.0 60 No PI Yes Clinical features of 12 Arab CF children with identified CFTR mutation genotypes. Login to comment 66 ABCC7 p.Ile1234Val The I1234V mutation'5 was seen in the homozygous state in two sisters (aged 5 months and 5 years) who presented with failure to thrive and recurrent diarrhoea. Login to comment 67 ABCC7 p.Ile1234Val The I1234V mutation'5 was seen in the homozygous state in two sisters (aged 5 months and 5 years) who presented with failure to thrive and recurrent diarrhoea. Login to comment 75 ABCC7 p.Asn1303Lys Out of 20 of the most common mutations in white populations, only the N1303K mutation was detected. Login to comment 76 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys This finding is in line with a high incidence and a west to east increasing frequency gradient of N1303K in the Mediterranean basin. Login to comment 77 ABCC7 p.Asn1303Lys This finding is in line with a high incidence and a west to east increasing frequency gradient of N1303K in the Mediterranean basin. Login to comment 135 ABCC7 p.Asn1303Lys Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Login to comment 136 ABCC7 p.Asn1303Lys Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Login to comment